ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5251A>T (p.Lys1751Ter)

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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. RCV002308089 SCV002601778 likely pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy 2022-03-05 criteria provided, single submitter clinical testing NM_004006.2(DMD):c.5251A>T(K1751*) 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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