Submissions for variant NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)

gnomAD frequency: 0.00002  dbSNP: rs368325383

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769389	SCV000900781	uncertain significance	Cardiomyopathy	2017-09-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000994888	SCV001148693	likely benign	not provided	2021-03-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001111701	SCV001269280	uncertain significance	Arrhythmogenic right ventricular dysplasia 9	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001111701	SCV001411230	likely benign	Arrhythmogenic right ventricular dysplasia 9	2025-01-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769389	SCV001734794	likely benign	Cardiomyopathy	2020-06-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002422652	SCV002724356	likely benign	Cardiovascular phenotype	2021-07-27	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003235387	SCV003933773	likely benign	not specified	2023-05-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003999925	SCV004845956	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing