ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10651C>T (p.Gln3551Ter)

dbSNP: rs1064793742
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480741 SCV000566913 pathogenic not provided 2015-06-10 criteria provided, single submitter clinical testing The Q3551X nonsense variant in the DMD gene has been reported previously in association withDuchenne muscular dystrophy (Magri et al., 2011). This variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. The Q3551Xvariant was not observed in approximately 6,500 individuals of European and African American ancestryin the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations. The Q3551X variant is considered pathogenic.

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