Submissions for variant NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)

gnomAD frequency: 0.00004  dbSNP: rs550818559

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150576	SCV000197834	uncertain significance	not specified	2014-01-22	criteria provided, single submitter	clinical testing	The Arg1852Cys variant in DSP has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg1852Cys variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. Additional information is needed to ful ly assess the clinical significance of the Arg1852Cys variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528868	SCV000641322	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2025-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621108	SCV000738190	likely benign	Cardiovascular phenotype	2023-01-26	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.
Color Diagnostics, LLC DBA Color Health	RCV000777829	SCV000913827	likely benign	Cardiomyopathy	2018-06-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952711	SCV004773222	likely benign	DSP-related disorder	2023-05-22	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).