ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1138G>A (p.Glu380Lys) (rs878898365)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000491595 SCV000831899 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-05-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 380 of the PKP2 protein (p.Glu380Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PKP2-related disease. ClinVar contains an entry for this variant (Variation ID: 265836). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770418 SCV000901861 uncertain significance Cardiomyopathy 2017-09-19 criteria provided, single submitter clinical testing
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia RCV000491595 SCV000298160 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2016-05-01 no assertion criteria provided clinical testing

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