ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1138G>T (p.Glu380Ter) (rs878898365)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589832 SCV000698459 likely pathogenic Arrhythmogenic right ventricular dysplasia/cardiomyopathy 2017-05-09 criteria provided, single submitter clinical testing Variant summary: The PKP2 c.1138G>T (p.Glu380X) variant results in a premature termination codon, predicted to cause a truncated or absent PKP2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.1237C>T, p.Arg413X; c.1613G>A, p.Trp538X; c.1912C>T, p.Gln638X; c.2013delC, p.Lys672fsX12). Mutation taster predicts a damaging outcome for this variant. The variant of interest is absent in a large, broad control population, ExAC in 121400 control chromosomes. The variant of interest has not been reported in peer-reviewed publications and/or by clinical diagnostic laboratories. ARVC and LOVD databases report this variant citing a poster material published in a journal (Tsatsopoulou et al. European Heart Journal 2007;28:Suppl; 382) in one proband with TCF positive ARVC who had positive family history of disease with five affected relatives. Both databases have classified it as pathogenic. Taken together, this variant is classified as likely pathogenic.
Ambry Genetics RCV000621081 SCV000734878 pathogenic Cardiovascular phenotype 2016-02-25 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)

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