ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.763T>G (p.Cys255Gly)

dbSNP: rs879254668
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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 RCV000237434 SCV000294960 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
All of Us Research Program, National Institutes of Health RCV000237434 SCV004837567 uncertain significance Hypercholesterolemia, familial, 1 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces cysteine with glycine at codon 255 of the LDLR protein. This variant is also known as p.Cys234Gly in the mature protein. This variant alters a conserved cysteine residue that is critical for proper protein folding and function (PMID: 2088165, 6091915, 15952897). Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with familial hypercholesterolemia (PMID: 15823276, 16250003, 23833242, 32770674). In several of these instances, this variant has been reported to occur in cis or in unknown phase with p.Gln254His (PMID: 15823276, 23833242, 32770674). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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