ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5932C>T (p.Arg1978Cys)

dbSNP: rs2097557042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046728 SCV001210642 uncertain significance Duchenne muscular dystrophy 2023-08-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 843992). This variant has not been reported in the literature in individuals affected with DMD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1978 of the DMD protein (p.Arg1978Cys).
Ambry Genetics RCV002355019 SCV002653959 uncertain significance Cardiovascular phenotype 2021-04-07 criteria provided, single submitter clinical testing The p.R1978C variant (also known as c.5932C>T), located in coding exon 42 of the DMD gene, results from a C to T substitution at nucleotide position 5932. The arginine at codon 1978 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly 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.
Natera, Inc. RCV001832440 SCV002093442 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-07-04 no assertion criteria provided clinical testing

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