ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2126A>T (p.Gln709Leu)

dbSNP: rs370459675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552689 SCV000625860 uncertain significance Duchenne muscular dystrophy 2017-05-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glutamine with leucine at codon 709 of the DMD protein (p.Gln709Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a DMD-related disease. In summary, this variant has uncertain impact on DMD function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001829541 SCV002092186 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-11 no assertion criteria provided clinical testing

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