Submissions for variant NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys)

gnomAD frequency: 0.00002  dbSNP: rs765207227

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000734758	SCV000862926	uncertain significance	not provided	2018-08-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000807737	SCV000947806	uncertain significance	Duchenne muscular dystrophy	2022-11-01	criteria provided, single submitter	clinical testing	This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 2485 of the DMD protein (p.Trp2485Cys). This variant is present in population databases (rs765207227, gnomAD 0.004%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 598379). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000734758	SCV000987677	uncertain significance	not provided		criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000734758	SCV003829495	uncertain significance	not provided	2021-06-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001825485	SCV002087762	uncertain significance	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2018-07-04	no assertion criteria provided	clinical testing