ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.139G>A (p.Gly47Arg)

dbSNP: rs1557084183
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307377 SCV001496787 uncertain significance Duchenne muscular dystrophy 2021-10-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 47 of the DMD protein (p.Gly47Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with DMD-related conditions (PMID: 27122458). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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