ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.752dup (p.Ser252fs)

dbSNP: rs879254666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237178 SCV000294951 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237178 SCV000583734 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857825 SCV002209104 pathogenic Familial hypercholesterolemia 2022-05-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser252Glnfs*5) 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 familial hypercholesterolemia (PMID: 20809525). ClinVar contains an entry for this variant (Variation ID: 251434). For these reasons, this variant has been classified as Pathogenic.

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