Patient record

VP-10775

35-44 · Male · Cardiomyopathy on imaging

HighClassification drift

The interpretation moved across the clinically actionable boundary since this result was reported.

2023 · On file

Uncertain significance

Reported 20 Mar 2023

Science evolves

Today · ClinVar

Likely pathogenic

ClinVar last evaluated 31 Jul 2025 · Single submitter

Patient summary

Record: VP-10775
Age band: 35-44
Sex: Male
Test date: 20 Mar 2023
Reporting laboratory: Cardiac Genetics Laboratory
Ordering department: Cardiology
Clinical owner: Dr. P. Varga
Last contact: 11 Jun 2024
Indication: Cardiomyopathy on imaging

Synthetic record. No identifiers in this workspace correspond to a real person.

Historical finding

ClinVar

MYBPC3c.776delinsTT (p.Ala259fs)

Panel: Inherited cardiac conditions panel
Condition: Left ventricular non-compaction / cardiomyopathy
ClinVar: VCV004689837
dbSNP: Not linked
As reported: Uncertain significance
Reported on: 20 Mar 2023

Novel frameshift change with no public submissions at the time of reporting. Classified as uncertain pending further evidence.

Current interpretation

Read from ClinVar at the last evidence sync.

Classification: Likely pathogenic
Consensus status: Single submitter
Evidence confidence: Limited1 of 4 review criteria met
Last evaluated: 31 Jul 2025
Submissions: 1
Molecular consequence: frameshift variant
Variant type: Indel
Location: chr11:47347902 (GRCh38)

Evidence summary

Decision support

Since the 2023 report, the consensus for MYBPC3 c.776delinsTT has moved from uncertain significance to likely pathogenic. That reading rests on a single submission at limited review confidence, single submitter. That crosses the clinically actionable boundary, so management guidance issued on the original interpretation may no longer be the right guidance. 2 records on file carry this variant and have not yet been reassessed.

Composed from the structured fields of the records cited on this page. Requires clinical verification before it informs any decision.

How VariantPulse reached this resultEight steps, each one inspectable

1Historical record retrievedMYBPC3 c.776delinsTT reported as Uncertain significance on 2023-03-20.
2Variant normalisedResolved to ClinVar VCV004689837 and keyed as MYBPC3:c.776delinsTT.
3Current evidence retrievedRead live from ClinVar: Likely pathogenic, 1 submission, criteria provided, single submitter.
4Classification difference detectedRecorded interpretation normalised to Uncertain significance. Current interpretation normalised to Likely pathogenic. The interpretation crossed into the clinically actionable band, so records carrying it may need review.
5Regional sources comparedRegional index asserts Likely pathogenic, consistent with the global reading.
6Impacted records identified12,482 findings checked; 2 carry this variant.
7Evidence brief generatedComposed from the structured fields of the cited records above.
8Human review requestedVariantPulse does not change any record. A clinician decides what happens next.

Global and regional evidence

Sources agree

Global · ClinVar

Likely pathogenic

criteria provided, single submitter · Last evaluated 31 Jul 2025

Regional · Regional Evidence Index

Likely pathogenic

0 observations in 3,042 · updated 25 Sept 2026

Sources consistent

Both lanes fall in the same clinical band.

Both sources place this variant in the same band.

Global

Likely pathogenic

Submissions: 1
Review status: Single submitter
Last evaluated: 31 Jul 2025
Reference frequency: Not reported

Read from ClinVar, which aggregates submissions dominated by European-ancestry cohorts.

Regional

Likely pathogenic

Observations: 0
Cohort size: 3,042
Last updated: 25 Sept 2026
Regional frequency: 0.00e+0

Modelled regional aggregation maintained inside this workspace.

VariantPulse analysis

Both sources place this variant in the same band, so there is no divergence to resolve. CTGA lists this frameshift in a UAE patient as likely pathogenic for left ventricular non-compaction (record dated 2020). It did not appear in ClinVar until after January 2023 (first classified likely pathogenic, July 2025, single submitter). Another case where a regional catalogue carried the answer before global databases did.

How the interpretation changed

MYBPC3 c.776delinsTT. The DNA is unchanged. The evidence around it is not.

2023Genetic test performedFirst record on file carrying MYBPC3 c.776delinsTT.
2023Reported as uncertain significanceNovel frameshift change with no public submissions at the time of reporting. Classified as uncertain pending further evidence.
2025Classification now likely pathogenicLast evaluated 31 Jul 2025 · Single submitter.
TodayVariantPulse identified the affected records2 historical records carry this variant and were flagged for clinical review.

Decision support only. Final interpretation remains with the qualified clinical team.