Submissions for variant NM_001005242.3(PKP2):c.2168-4G>C

dbSNP: rs376231586

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586307	SCV000698471	uncertain significance	not provided	2016-01-15	criteria provided, single submitter	clinical testing	Variant summary: The c.2300-4G>C variant affects a non-conserved intronic nucleotide. One in-silico tool predicts benign outcome for this variant. 4/4 programs in Alamut predict that this variant does not affect normal splicing. This variant is found in 9/111404 control chromosomes at a frequency of 0.0000808, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0010756). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Ambry Genetics	RCV000622084	SCV000736656	likely benign	Cardiovascular phenotype	2023-11-02	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084523	SCV000761636	likely benign	Arrhythmogenic right ventricular dysplasia 9	2024-01-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000772484	SCV000905663	likely benign	Cardiomyopathy	2018-10-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000586307	SCV001860737	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905509	SCV004724917	likely benign	PKP2-related disorder	2019-08-06	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).