Patient record

VP-10691

18-24 · Female · Cascade testing following a family result

HighClassification drift

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

2022 · On file

Pathogenic

Reported 16 Aug 2022

Science evolves

Today · ClinVar

Uncertain significance

ClinVar last evaluated 13 Nov 2025 · Reviewed by expert panel

Patient summary

Record: VP-10691
Age band: 18-24
Sex: Female
Test date: 29 Nov 2022
Reporting laboratory: Cardiac Genetics Laboratory
Ordering department: Cardiology
Clinical owner: Dr. P. Varga
Last contact: 20 Jan 2025
Indication: Cascade testing following a family result

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

Historical finding

ClinVar

MYBPC3c.26-2A>G

Panel: Inherited cardiac conditions panel
Condition: Hypertrophic cardiomyopathy
ClinVar: VCV000042644
dbSNP: rs376395543
As reported: Pathogenic
Reported on: 16 Aug 2022

Canonical splice-site change reported as pathogenic; family cascade testing and cardiac surveillance initiated.

Current interpretation

Read from ClinVar at the last evidence sync.

Classification: Uncertain significance
Consensus status: Reviewed by expert panel
Evidence confidence: Strong3 of 4 review criteria met
Last evaluated: 13 Nov 2025
Submissions: 36
Molecular consequence: splice acceptor variant
Variant type: single nucleotide variant
Location: chr11:47351507 (GRCh38)

Evidence summary

Decision support

Since the 2022 report, the consensus for MYBPC3 c.26-2A>G has moved from pathogenic to uncertain significance. That reading rests on 36 submissions at strong review confidence, reviewed by expert panel. That moves the variant out of the clinically actionable band, so surveillance or management started on the original interpretation may no longer be indicated. 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.26-2A>G reported as Pathogenic on 2022-08-16.
2Variant normalisedResolved to ClinVar VCV000042644 (rs376395543) and keyed as MYBPC3:c.26-2A>G.
3Current evidence retrievedRead live from ClinVar: Uncertain significance, 36 submissions, reviewed by expert panel.
4Classification difference detectedRecorded interpretation normalised to Pathogenic. Current interpretation normalised to Uncertain significance. The interpretation left the clinically actionable band, so earlier management guidance may no longer apply.
5Regional sources comparedNo regional evidence is held for this variant.
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.

How the interpretation changed

MYBPC3 c.26-2A>G. The DNA is unchanged. The evidence around it is not.

2022Genetic test performedFirst record on file carrying MYBPC3 c.26-2A>G.
2022Reported as pathogenicCanonical splice-site change reported as pathogenic; family cascade testing and cardiac surveillance initiated.
2023Further literature published1 indexed publication appeared after the original report.
2025Submissions accumulated36 independent submissions now contribute to the classification.
2025Classification now uncertain significanceLast evaluated 13 Nov 2025 · Reviewed by expert panel.
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.