ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.4222C>T (p.Gln1408Ter) (rs1057524291)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430460 SCV000535096 likely pathogenic not provided 2017-06-29 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the DMD gene. The Q1408X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although Q1408X has not been previously reported to our knowledge, other nonsense variants in the DMD gene have been reported in the Human Gene Mutation Database in association with dystrophinopathies (Stenson et al., 2014). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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