ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.888C>A (p.Cys296Ter)

dbSNP: rs879254708
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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 RCV000237489 SCV000295031 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV001854893 SCV002228771 pathogenic Familial hypercholesterolemia 2022-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 251504). This variant is also known as FH-Huddinge or p.Cys275*. This premature translational stop signal has been observed in individuals with familial hypercholesterolemia (PMID: 9698020, 21457052, 31491741). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys296*) 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).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237489 SCV000606259 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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