ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1270del (p.Gln423_Met424insTer)

dbSNP: rs1602459861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008740 SCV001168521 pathogenic not provided 2019-01-31 criteria provided, single submitter clinical testing The c.1270delA variant is not observed in large population cohorts (Lek et al., 2016). This deletion causes a frameshift starting with codon Methionine 424 and changes this amino acid to a premature Stop codon, denoted p.Met424Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although c.1270delA has not been previously reported to our knowledge, other loss-of-function variants have been reported in the Human Gene Mutation Database in association with dystrophinopathies (Stenson et al., 2014).
Revvity Omics, Revvity RCV001008740 SCV002022148 likely pathogenic not provided 2022-01-28 criteria provided, single submitter clinical testing

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