Submissions for variant NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys)

gnomAD frequency: 0.00002  dbSNP: rs368114420

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000594752	SCV000704751	uncertain significance	not provided	2017-01-03	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000594752	SCV001715405	uncertain significance	not provided	2020-04-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001854037	SCV002275374	likely benign	Duchenne muscular dystrophy	2024-09-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377232	SCV002686192	uncertain significance	Cardiovascular phenotype	2023-02-21	criteria provided, single submitter	clinical testing	The p.G2964C variant (also known as c.8890G>T), located in coding exon 59 of the DMD gene, results from a G to T substitution at nucleotide position 8890. The glycine at codon 2964 is replaced by cysteine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.0006% (1/179930) total alleles studied, with 1 hemizygotes observed. 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.
GeneDx	RCV000594752	SCV005686250	uncertain significance	not provided	2024-07-22	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
PreventionGenetics, part of Exact Sciences	RCV004737865	SCV005356040	likely benign	DMD-related disorder	2024-06-06	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).