ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1965A>G (p.Gln655=) (rs727505293)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156826 SCV000206547 likely benign not specified 2014-11-06 criteria provided, single submitter clinical testing p.Gln699Gln in exon 10 of PKP2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
GeneDx RCV000156826 SCV000532233 likely benign not specified 2016-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000778004 SCV000914112 likely benign Cardiomyopathy 2018-10-17 criteria provided, single submitter clinical testing
Invitae RCV000819040 SCV000959681 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-04-09 criteria provided, single submitter clinical testing This sequence change affects codon 699 of the PKP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PKP2 protein. 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: 180023). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994887 SCV001148691 likely benign not provided 2018-09-01 criteria provided, single submitter clinical testing

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