ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8918A>T (p.Asp2973Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004729329 SCV005333907 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004994453 SCV005568649 uncertain significance Cardiovascular phenotype 2024-12-06 criteria provided, single submitter clinical testing The p.D2973V variant (also known as c.8918A>T), located in coding exon 59 of the DMD gene, results from an A to T substitution at nucleotide position 8918. The aspartic acid at codon 2973 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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