ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5707C>G (p.Leu1903Val)

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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 RCV004516422 SCV005021411 uncertain significance Cardiovascular phenotype 2024-01-16 criteria provided, single submitter clinical testing The p.L1903V variant (also known as c.5707C>G), located in coding exon 40 of the DMD gene, results from a C to G substitution at nucleotide position 5707. The leucine at codon 1903 is replaced by valine, an amino acid with highly similar properties. Based on data from gnomAD, the X allele has an overall frequency of <0.01% (1/183020) total alleles studied, with 1 hemizygote observed. The highest observed frequency was <0.01% (1/13154) 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 RCV005100457 SCV005732989 uncertain significance Duchenne muscular dystrophy 2024-10-06 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1903 of the DMD protein (p.Leu1903Val). This variant is present in population databases (rs370969622, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DMD-related conditions. 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.

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