Submissions for variant NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp)

gnomAD frequency: 0.00005  dbSNP: rs767661570

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000641803	SCV000763453	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2023-06-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001183055	SCV001348710	uncertain significance	Cardiomyopathy	2023-05-11	criteria provided, single submitter	clinical testing	This missense variant replaces arginine with tryptophan at codon 2189 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual suspected of having dilated cardiomyopathy (PMID: 30847666). This variant has been identified in 13/251482 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen	RCV001701426	SCV004698908	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing	DSP: PM2
Clinical Genetics, Academic Medical Center	RCV001701426	SCV001925074	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701426	SCV001956634	uncertain significance	not provided		no assertion criteria provided	clinical testing