ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2078A>G (p.Lys693Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004008107 SCV004817819 uncertain significance Hypercholesterolemia, familial, 1 2023-02-24 criteria provided, single submitter clinical testing This missense variant (also known as p.Lys672Arg in the mature protein) replaces lysine with arginine at codon 693 of the LDLR protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LDLR-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). 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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