ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1256T>C (p.Leu419Ser)

dbSNP: rs1265030036
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046271 SCV001210167 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2021-04-09 criteria provided, single submitter clinical testing 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. 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 and their clinical significance is uncertain. This variant has been observed in individual(s) with arrythmogenic right ventricular cardiomyopathy (PMID: 19427443). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with serine at codon 419 of the PKP2 protein (p.Leu419Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine.

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