Submissions for variant NM_004415.4(DSP):c.157T>G (p.Ser53Ala)

dbSNP: rs397516918

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037997	SCV000061663	uncertain significance	not specified	2012-10-19	criteria provided, single submitter	clinical testing	The Ser53Ala variant in DSP has not been reported in the literature nor previous ly identified by our laboratory. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is neede d to fully assess the clinical significance of the Ser53Ala variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081644	SCV000288528	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000836078	SCV000977907	likely benign	not provided	2018-09-14	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.
Color Diagnostics, LLC DBA Color Health	RCV001176801	SCV001340857	likely benign	Cardiomyopathy	2018-03-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037997	SCV002103748	likely benign	not specified	2022-02-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390153	SCV002703388	likely benign	Cardiovascular phenotype	2019-05-08	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.
PreventionGenetics, part of Exact Sciences	RCV003944915	SCV004775292	benign	DSP-related disorder	2020-04-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).