ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1306G>A (p.Val436Met)

dbSNP: rs2147247608
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525990 SCV001736231 uncertain significance Familial hypercholesterolemia 2020-05-12 criteria provided, single submitter clinical testing This missense variant (also known as p.Val415Met in the mature protein) replaces valine with methionine at codon 436 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 familial hypercholesterolemia 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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