Submissions for variant NM_004415.4(DSP):c.3282G>C (p.Lys1094Asn)

dbSNP: rs2491080

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001183944	SCV001349793	uncertain significance	Cardiomyopathy	2020-03-09	criteria provided, single submitter	clinical testing	This missense variant replaces lysine with asparagine at codon 1094 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with idiopathic ventricular fibrillation (PMID: 29032884). This variant has been identified in 3/250932 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003770035	SCV004569120	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-04-17	criteria provided, single submitter	clinical testing