ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2439del (p.Ile813fs)

dbSNP: rs2042990064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223700 SCV001395859 pathogenic Duchenne muscular dystrophy 2019-07-08 criteria provided, single submitter clinical testing Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant has not been reported in the literature in individuals with DMD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile813Metfs*7) in the DMD gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003145420 SCV003829298 likely pathogenic not provided 2022-03-28 criteria provided, single submitter clinical testing

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