ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.5758C>T (p.Gln1920Ter) (rs1057520764)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424485 SCV000517354 pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing The Q1920X pathogenic variant in the DMD gene has been reported previously in association withdystrophinopathy, specifically with Duchenne muscular dystrophy (Flanigan et al., 2009). It was notobserved in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The Q1920X variant is predicted to cause loss of normal protein function either through proteintrunctation or nonsense mediated mRNA decay. Therefore, we interpret the Q1920X variant as pathogenic.
Ambry Genetics RCV000620663 SCV000737016 pathogenic Cardiovascular phenotype 2017-04-17 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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