ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8895T>A (p.Asp2965Glu)

gnomAD frequency: 0.00003  dbSNP: rs781748062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526573 SCV000625981 uncertain significance Duchenne muscular dystrophy 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 2965 of the DMD protein (p.Asp2965Glu). This variant is present in population databases (rs781748062, gnomAD 0.03%). 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: 455943). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DMD protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002376998 SCV002685904 uncertain significance Cardiovascular phenotype 2021-11-22 criteria provided, single submitter clinical testing The p.D2965E variant (also known as c.8895T>A), located in coding exon 59 of the DMD gene, results from a T to A substitution at nucleotide position 8895. The aspartic acid at codon 2965 is replaced by glutamic acid, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.002% (4/179878) total alleles studied, with no hemizygotes observed. The highest observed frequency was 0.03% (4/12992) of African/African-American alleles. This amino acid position is highly conserved in available 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.
Revvity Omics, Revvity RCV003144316 SCV003829512 uncertain significance not provided 2023-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834739 SCV002080223 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-09-25 no assertion criteria provided clinical testing

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