ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5864G>A (p.Arg1955His)

gnomAD frequency: 0.00002  dbSNP: rs200455300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620321 SCV000736214 uncertain significance Cardiovascular phenotype 2016-01-14 criteria provided, single submitter clinical testing The p.R1955H variant (also known as c.5864G>A), located in coding exon 41 of the DMD gene, results from a G to A substitution at nucleotide position 5864. The arginine at codon 1955 is replaced by histidine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs200455300. Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0% (0/503) total male alleles studied. 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 variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000630525 SCV000751487 uncertain significance Duchenne muscular dystrophy 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1955 of the DMD protein (p.Arg1955His). This variant is present in population databases (rs200455300, gnomAD 0.008%). This missense change has been observed in individual(s) with DMD-related conditions (PMID: 37510298). ClinVar contains an entry for this variant (Variation ID: 518775). 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.
Eurofins Ntd Llc (ga) RCV000730821 SCV000858585 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829736 SCV002093450 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-06 no assertion criteria provided clinical testing

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