ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1956del (p.Asp652fs)

dbSNP: rs886043640
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000260334 SCV000341235 pathogenic not provided 2016-05-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420934 SCV001623395 likely pathogenic Qualitative or quantitative defects of dystrophin 2021-05-01 criteria provided, single submitter clinical testing Variant summary: DMD c.1956delT (p.Asp652GlufsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 183151 control chromosomes. To our knowledge, no occurrence of c.1956delT in individuals affected with Dystrophinopathies and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV005090372 SCV005763109 pathogenic Duchenne muscular dystrophy 2024-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp652Glufs*3) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 287457). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001833375 SCV002092210 likely pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-03-16 no assertion criteria provided clinical testing

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