ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.355G>A (p.Gly119Arg)

dbSNP: rs869320648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SNPedia RCV000210835 SCV000267116 likely pathogenic Hypercholesterolemia, familial, 1 2016-04-03 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV002517439 SCV003443096 uncertain significance Familial hypercholesterolemia 2022-04-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 119 of the LDLR protein (p.Gly119Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of LDLR-related conditions and/or LDLR-related conditions (PMID: 27050191; Invitae). ClinVar contains an entry for this variant (Variation ID: 225179). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.

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