ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) (rs143782040)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155805 SCV000171017 benign not specified 2014-04-27 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155805 SCV000205516 benign not specified 2014-10-02 criteria provided, single submitter clinical testing p.Asn547Asn in exon 7 of PKP2: This variant is not expected to have clinical sig nificance because it has been identified in 1.0% (6/572) of East Asian chromosom es by the 1000 Genomes Project (dbSNP rs143782040).
Invitae RCV000226692 SCV000288596 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618913 SCV000735904 likely benign Cardiovascular phenotype 2016-04-25 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV000771252 SCV000903354 benign Cardiomyopathy 2018-07-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000226692 SCV001269792 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-02-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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