ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.980G>T (p.Gly327Val) (rs759660796)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208429 SCV000264142 uncertain significance Ventricular tachycardia 2015-10-13 criteria provided, single submitter clinical testing
Invitae RCV000802101 SCV000941916 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 327 of the PKP2 protein (p.Gly327Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs759660796, ExAC 0.01%). This variant has not been reported in the literature in individuals with PKP2-related disease. ClinVar contains an entry for this variant (Variation ID: 222764). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color RCV001185753 SCV001352028 uncertain significance Cardiomyopathy 2020-03-24 criteria provided, single submitter clinical testing

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