Submissions for variant NM_004415.4(DSP):c.8268A>C (p.Ile2756=)

gnomAD frequency: 0.00006  dbSNP: rs397516963

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038098	SCV000061764	likely benign	not specified	2015-03-30	criteria provided, single submitter	clinical testing	p.Ile2756Ile in exon 24 of DSP: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (112/16510) of South Asian chr omosomes including three homozygotes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397516963).
GeneDx	RCV000038098	SCV000233554	benign	not specified	2014-09-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000547042	SCV000641352	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-01-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771375	SCV000903672	benign	Cardiomyopathy	2018-10-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771375	SCV001332697	benign	Cardiomyopathy	2018-07-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001312048	SCV001502475	likely benign	not provided	2021-01-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038098	SCV001623330	benign	not specified	2021-04-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426565	SCV002681442	likely benign	Cardiovascular phenotype	2021-01-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Clinical Genetics, Academic Medical Center	RCV000038098	SCV001921412	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001312048	SCV001974091	likely benign	not provided		no assertion criteria provided	clinical testing