ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2092del (p.Cys698fs)

dbSNP: rs879255135
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238404 SCV000295866 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238404 SCV000599403 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia RCV000238404 SCV001432558 pathogenic Hypercholesterolemia, familial, 1 2019-06-04 criteria provided, single submitter research
Revvity Omics, Revvity RCV000238404 SCV003831288 likely pathogenic Hypercholesterolemia, familial, 1 2022-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003581640 SCV004297877 pathogenic Familial hypercholesterolemia 2024-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys698Alafs*11) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hypercholesterolemia (PMID: 11845603). ClinVar contains an entry for this variant (Variation ID: 252214). For these reasons, this variant has been classified as Pathogenic.

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