Submissions for variant NM_001005242.3(PKP2):c.306C>A (p.Ser102=)

gnomAD frequency: 0.00012  dbSNP: rs376613662

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216533	SCV000270736	likely benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing	p.Ser102Ser in exon 2 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 0.1% (22/16510) of South Asian chromosomes including 2 homozygotes and 37/66714 European chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; db SNP rs376613662).
Illumina Laboratory Services, Illumina	RCV000640040	SCV000378473	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.
GeneDx	RCV001705197	SCV000515353	likely benign	not provided	2020-09-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000640040	SCV000761628	benign	Arrhythmogenic right ventricular dysplasia 9	2024-01-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777733	SCV000913691	likely benign	Cardiomyopathy	2018-09-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444855	SCV002753850	likely benign	Cardiovascular phenotype	2024-03-28	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000777733	SCV003838850	likely benign	Cardiomyopathy	2023-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000216533	SCV004803395	likely benign	not specified	2024-01-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997709	SCV004846548	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Cohesion Phenomics	RCV000777733	SCV003803064	likely benign	Cardiomyopathy	2022-10-04	no assertion criteria provided	clinical testing