Patient record

VP-10913

45-54 · Male · Persistently raised LDL cholesterol

No material change

Current evidence agrees with the interpretation issued for this record.

Patient summary

Record: VP-10913
Age band: 45-54
Sex: Male
Test date: 4 Jul 2022
Reporting laboratory: Genomics Core Laboratory
Ordering department: Lipid Clinic
Clinical owner: Dr. H. Nassar
Last contact: 19 Jul 2023
Indication: Persistently raised LDL cholesterol

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

Historical finding

ClinVar

LDLRc.2479G>A (p.Val827Ile)

Panel: Lipid disorders panel
Condition: Familial hypercholesterolaemia
ClinVar: VCV000036462
dbSNP: rs137853964
As reported: Uncertain significance
Reported on: 4 Jul 2022

Reported as uncertain significance by expert-panel criteria.

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: 22 Jun 2021
Submissions: 39
Molecular consequence: missense variant
Variant type: single nucleotide variant
Location: chr19:11129602 (GRCh38)

Evidence summary

Decision support

Current evidence for LDLR c.2479G>A agrees with the uncertain significance interpretation issued in 2022. The classification was last evaluated on 22 Jun 2021 and carries 39 submissions.

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 retrievedLDLR c.2479G>A reported as Uncertain significance on 2022-07-04.
2Variant normalisedResolved to ClinVar VCV000036462 (rs137853964) and keyed as LDLR:c.2479G>A.
3Current evidence retrievedRead live from ClinVar: Uncertain significance, 39 submissions, reviewed by expert panel.
4Classification difference detectedRecorded interpretation normalised to Uncertain significance. Current interpretation normalised to Uncertain significance. Codes are identical, so no reclassification has occurred.
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

LDLR c.2479G>A. The DNA is unchanged. The evidence around it is not.

2022Genetic test performedFirst record on file carrying LDLR c.2479G>A.
2022Reported as uncertain significanceReported as uncertain significance by expert-panel criteria.
2021Submissions accumulated39 independent submissions now contribute to the classification.
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.