ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1604T>C (p.Val535Ala)

gnomAD frequency: 0.00001  dbSNP: rs770149373
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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 RCV000630565 SCV000751530 uncertain significance Duchenne muscular dystrophy 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 535 of the DMD protein (p.Val535Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs770149373, ExAC 0.01%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with DMD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. RCV001829757 SCV002090343 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-08-07 no assertion criteria provided clinical testing

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