ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.271G>A (p.Gly91Ser)

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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 RCV004015830 SCV004839102 uncertain significance Hypercholesterolemia, familial, 1 2024-01-03 criteria provided, single submitter clinical testing This missense variant (also known as p.Gly70Ser in the mature protein) replaces glycine with serine at codon 91 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 been reported in one individual affected with familial hypercholesterolemia (PMID: 33955087). 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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