ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9957T>A (p.Cys3319Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310314 SCV002602298 likely pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy 2021-12-29 criteria provided, single submitter clinical testing NM_004006.2(DMD):c.9957T>A(C3319*) is expected to be pathogenic in the context of dystrophinopathy (including Duchenne/Becker muscular dystrophy). This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in DMD, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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