ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.940G>T (p.Gly314Trp)

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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 RCV004015115 SCV004832175 uncertain significance Hypercholesterolemia, familial, 1 2023-08-23 criteria provided, single submitter clinical testing This missense variant (also known as p.Gly293Trp in the mature protein) replaces glycine with tryptophan at codon 314 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 at least two individuals affected with familial hypercholesterolemia (PMID: 28104544, 33794673). This variant has been identified in 2/250802 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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