ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs747055774
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Total submissions: 5
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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).

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