ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.837_838del (p.Val280fs) (rs772220644)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000505802 SCV000236266 pathogenic not provided 2021-04-30 criteria provided, single submitter clinical testing Identified in a patient with arrhythmogenic right ventricular cardiomyopathy in published literature (Te Riele et al., 2017) and in individuals referred for genetic testing at GeneDx; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30677492, 28069705, 31447099, 31386562, 31402444)
Invitae RCV000464940 SCV000545237 pathogenic Arrhythmogenic right ventricular dysplasia 9 2019-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val280Hisfs*55) in the PKP2 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 28069705). ClinVar contains an entry for this variant (Variation ID: 202015). Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). For these reasons, this variant has been classified as Pathogenic.
Gharavi Laboratory,Columbia University RCV000505802 SCV000809451 pathogenic not provided 2018-09-16 no assertion criteria provided research

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