ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.494A>T (p.Asp165Val)

dbSNP: rs1557052542
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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 RCV000630564 SCV000751529 uncertain significance Duchenne muscular dystrophy 2018-06-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 165 of the DMD protein (p.Asp165Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Becker muscular dystrophy (PMID: 12632325, Invitae). Experimental studies have shown that this missense change increases protein aggregation and thermal denaturation but does not significantly affect actin-binding affinity (PMID: 20457930). 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.
Institute of Human Genetics, University of Wuerzburg RCV003388590 SCV004100325 pathogenic Becker muscular dystrophy no assertion criteria provided clinical testing

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