Submissions for variant NM_001005242.3(PKP2):c.795G>T (p.Gly265=)

gnomAD frequency: 0.00007  dbSNP: rs375268778

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217593	SCV000270739	likely benign	not specified	2015-12-04	criteria provided, single submitter	clinical testing	p.Gly265Gly in exon 03 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. It has been identified in 7/66600 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs375268778).
GeneDx	RCV001697183	SCV000534514	likely benign	not provided	2019-01-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000526769	SCV000638908	likely benign	Arrhythmogenic right ventricular dysplasia 9	2024-01-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777825	SCV000913822	likely benign	Cardiomyopathy	2018-10-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000526769	SCV001269901	uncertain significance	Arrhythmogenic right ventricular dysplasia 9	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV001697183	SCV001961352	likely benign	not provided	2021-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415897	SCV002678008	likely benign	Cardiovascular phenotype	2018-11-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.