ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.640T>C (p.Trp214Arg)

dbSNP: rs1600711159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222149 SCV001394236 uncertain significance Familial hypercholesterolemia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 214 of the LDLR protein (p.Trp214Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with LDLR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fundacion Favaloro, PRICAI RCV001000105 SCV001156526 pathogenic Hypercholesterolemia, familial, 1 2019-05-29 no assertion criteria provided research

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