ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2329G>A (p.Gly777Ser)

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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 RCV004806760 SCV005427656 uncertain significance Hypercholesterolemia, familial, 1 2024-03-24 criteria provided, single submitter clinical testing This missense variant replaces glycine with serine at codon 777 of the LDLR protein. This variant is also known as p.Gly756Ser in the mature 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 been identified in 1/251456 chromosomes 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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