ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2186A>C (p.Asp729Ala)

dbSNP: rs1956123004
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043693 SCV001207451 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2019-03-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 773 of the PKP2 protein (p.Asp773Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. 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 not been reported in the literature in individuals with PKP2-related conditions. This variant is not present in population databases (ExAC no frequency).

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