ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.810C>A (p.Cys270Ter)

dbSNP: rs773328511
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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 RCV000238441 SCV000294987 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV001854891 SCV002157363 pathogenic Familial hypercholesterolemia 2021-01-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 15701167, 31491741). ClinVar contains an entry for this variant (Variation ID: 251465). This variant is also described as C149X in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys270*) 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 RCV000238441 SCV000606233 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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