Submissions for variant NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr)

gnomAD frequency: 0.00001  dbSNP: rs747055774

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000379290	SCV000341864	uncertain significance	not provided	2016-05-19	criteria provided, single submitter	clinical testing
Invitae	RCV000466186	SCV000550333	likely benign	Duchenne muscular dystrophy	2024-01-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000379290	SCV001824245	likely benign	not provided	2020-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365321	SCV002662944	uncertain significance	Cardiovascular phenotype	2020-03-18	criteria provided, single submitter	clinical testing	The p.N2299T variant (also known as c.6896A>C), located in coding exon 47 of the DMD gene, results from an A to C substitution at nucleotide position 6896. The asparagine at codon 2299 is replaced by threonine, an amino acid with similar properties. This variant has been detected in a control individual and in a male with dilated cardiomyopathy who also had other variants in the DMD gene (Feng J et al. Mol. Genet. Metab.;77:119-26). This amino acid position is well conserved in available vertebrate species; however, threonine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004535401	SCV004730348	likely benign	DMD-related disorder	2022-01-24	criteria provided, single submitter	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).