ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter)

dbSNP: rs13306515
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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 RCV000238410 SCV000295170 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000238410 SCV000503289 likely pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Invitae RCV001854898 SCV002240773 pathogenic Familial hypercholesterolemia 2022-03-27 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 9654205). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 251621). This variant is also known as C331X. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys352*) 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).

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