ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1129T>G (p.Cys377Gly)

gnomAD frequency: 0.00001  dbSNP: rs773064328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238460 SCV000295236 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
GeneDx RCV004772884 SCV005384229 pathogenic not provided 2024-04-25 criteria provided, single submitter clinical testing Identified in the heterozygous state in individuals with elevated LDL and total cholesterol and in the compound heterozygous state with a second LDLR variant in individuals with more severe disease in published literature (PMID: 24722143, 29693183); Published functional studies demonstrate a damaging effect: impairs LDL binding and internalization (PMID: 24722143, 29693183); 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 c.28893T>G p.(Cys377Gly) and c.1129T>G p.(Cys356Gly); This variant is associated with the following publications: (PMID: 24722143, 29693183, 27830735, 12459547, 2988123)

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