ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.647G>T (p.Cys216Phe)

dbSNP: rs879254611
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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 RCV000237519 SCV000294846 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477850 SCV004219991 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in a familial hypercholesterolemia patient (PMID:22881376 (2012)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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