ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2494A>G (p.Ile832Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002430982 SCV002741839 uncertain significance Cardiovascular phenotype 2020-12-24 criteria provided, single submitter clinical testing The p.I832V variant (also known as c.2494A>G), located in coding exon 20 of the DMD gene, results from an A to G substitution at nucleotide position 2494. The isoleucine at codon 832 is replaced by valine, an amino acid with highly similar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.0005% (1/183448) total alleles studied, with 0 hemizygotes observed. The highest observed frequency was 0.0076% (1/13156) of African 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003621659 SCV004519340 uncertain significance Duchenne muscular dystrophy 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 832 of the DMD protein (p.Ile832Val). This variant is present in population databases (rs370656879, gnomAD 0.008%). 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: 1792114). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DMD protein function. 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.

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