ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.428G>T (p.Cys143Phe)

dbSNP: rs879254522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Iberoamerican FH Network RCV000627177 SCV000748085 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
GeneDx RCV003235315 SCV003933283 likely pathogenic not provided 2022-12-10 criteria provided, single submitter clinical testing Published functional studies suggest decreased uptake of LDL (Gomez et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Also known as p.(C122F); This variant is associated with the following publications: (PMID: 30270055, 31689621)
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000627177 SCV005420564 likely pathogenic Hypercholesterolemia, familial, 1 2024-10-04 criteria provided, single submitter research PS3,PM2,PP3
Fundacion Favaloro, PRICAI RCV000627177 SCV001156524 pathogenic Hypercholesterolemia, familial, 1 2019-05-29 no assertion criteria provided research

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