ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5942C>G (p.Thr1981Arg)

dbSNP: rs140575687
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000389083 SCV000344835 uncertain significance not provided 2016-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001230896 SCV001403396 uncertain significance Duchenne muscular dystrophy 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 1981 of the DMD protein (p.Thr1981Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of DMD-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 290307). 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 tolerated. 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.
Natera, Inc. RCV001833406 SCV002093439 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-08-31 no assertion criteria provided clinical testing

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