ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.978A>G (p.Ala326=) (rs775137004)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220603 SCV000270740 likely benign not specified 2015-04-28 criteria provided, single submitter clinical testing p.Ala326Ala in exon 3 of PKP2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 3/66160 European ch romosomes and 2/16420 South Asian chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org).
GeneDx RCV000220603 SCV000535837 likely benign not specified 2017-01-06 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.
Invitae RCV000527561 SCV000638911 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-03-02 criteria provided, single submitter clinical testing

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