ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.331C>T (p.Gln111Ter)

dbSNP: rs2147223179
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874862 SCV002146184 pathogenic Familial hypercholesterolemia 2021-11-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LDLR-related conditions. This sequence change creates a premature translational stop signal (p.Gln111*) 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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