ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9955T>C (p.Cys3319Arg)

dbSNP: rs886044217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000370541 SCV000343973 uncertain significance not provided 2016-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000692409 SCV000820231 uncertain significance Duchenne muscular dystrophy 2023-10-11 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 3319 of the DMD protein (p.Cys3319Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Becker muscular dystrophy and/or DMD-related conditions (PMID: 19367636, 31069529, 31443951). ClinVar contains an entry for this variant (Variation ID: 289588). 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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