ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)

dbSNP: rs763936813
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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) RCV000351927 SCV000338955 pathogenic not provided 2017-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859630 SCV002228838 pathogenic Duchenne muscular dystrophy 2023-08-04 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with DMD-related dystrophinopathies (PMID: 11524473, 27363342). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln532*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 285784).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317180 SCV004020949 pathogenic Qualitative or quantitative defects of dystrophin 2023-06-19 criteria provided, single submitter clinical testing Variant summary: DMD c.1594C>T (p.Gln532X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, a commonly known mechanism for disease. The variant was absent in 182717 control chromosomes (gnomAD). c.1594C>T has been reported in the literature in individuals affected with Dystrophinopathies such as Duchenne muscular dystrophy (e.g. Xu_2018). These data indicate that the variant is very likely to be associated with disease. The following publication has been ascertained in the context of this evaluation (PMID: 29604111). Two submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and both classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV003469235 SCV004193996 pathogenic Becker muscular dystrophy 2023-05-25 criteria provided, single submitter clinical testing

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