ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6391_6392dup (p.Gln2131fs)

dbSNP: rs398124012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000397553 SCV000338916 pathogenic not provided 2016-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390485 SCV001592225 pathogenic Duchenne muscular dystrophy 2020-02-29 criteria provided, single submitter clinical testing This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This sequence change creates a premature translational stop signal (p.Gln2131Hisfs*33) in the DMD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.

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