Submissions for variant NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)

gnomAD frequency: 0.00001  dbSNP: rs200872948

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000445178	SCV000522677	likely benign	not specified	2016-02-10	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.
Eurofins Ntd Llc (ga)	RCV000727237	SCV000706863	uncertain significance	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621146	SCV000736999	uncertain significance	Cardiovascular phenotype	2023-02-02	criteria provided, single submitter	clinical testing	The p.C873R variant (also known as c.2617T>C), located in coding exon 20 of the DMD gene, results from a T to C substitution at nucleotide position 2617. The cysteine at codon 873 is replaced by arginine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the C allele has an overall frequency of <0.01% (2/183322) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was <0.01% (2/81763) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000820116	SCV000960811	likely benign	Duchenne muscular dystrophy	2024-08-01	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001195878	SCV001366302	uncertain significance	Dilated cardiomyopathy 3B	2018-12-11	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,BP1. This variant was detected in hemizygous state.
Genome-Nilou Lab	RCV000820116	SCV001716383	uncertain significance	Duchenne muscular dystrophy	2021-05-18	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000727237	SCV003834757	uncertain significance	not provided	2023-06-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727237	SCV004032930	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	DMD: BS2