ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1411C>G (p.Leu471Val)

dbSNP: rs878854708
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226315 SCV000288593 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2016-01-29 criteria provided, single submitter clinical testing In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change replaces leucine with valine at codon 515 of the PKP2 protein (p.Leu515Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. 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, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PKP2-related disease.

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