ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6964del (p.Asp2322fs)

dbSNP: rs398124039
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877327 SCV002135454 pathogenic Duchenne muscular dystrophy 2021-04-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of DMD-related conditions (PMID: 11524473, 33644936). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp2322Thrfs*16) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885).

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