ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.580A>G (p.Ser194Gly)

dbSNP: rs373488885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845539 SCV000987653 uncertain significance not provided criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002901 SCV004824693 uncertain significance Hypercholesterolemia, familial, 1 2024-04-25 criteria provided, single submitter clinical testing This missense variant (also known as p.Ser173Gly in the mature protein) replaces serine with glycine at codon 194 of the LDLR protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, 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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