Submissions for variant NM_001005242.3(PKP2):c.1863G>A (p.Pro621=)

gnomAD frequency: 0.00030  dbSNP: rs146144731

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038193	SCV000061860	likely benign	not specified	2010-07-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001719749	SCV000515608	likely benign	not provided	2020-01-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476378	SCV000557326	benign	Arrhythmogenic right ventricular dysplasia 9	2025-01-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777821	SCV000913817	likely benign	Cardiomyopathy	2018-09-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415474	SCV002720032	likely benign	Cardiovascular phenotype	2024-07-22	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.
All of Us Research Program, National Institutes of Health	RCV003996376	SCV004845959	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003934920	SCV004757538	likely benign	PKP2-related disorder	2023-06-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).