ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9033_9040del (p.Tyr3012fs)

dbSNP: rs1602937725
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008897 SCV001168703 pathogenic not provided 2018-06-06 criteria provided, single submitter clinical testing The c.9033_9040delGTATAACC variant causes a frameshift starting with codon Tyrosine 3012, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Tyr3012GlnfsX26. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.9033_9040delGTATAACC variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, other loss-of-function variants in the DMD gene have been reported in the Human Gene Mutation Database in association with dystrophinopathy (Stenson et al., 2014).

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