ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4295del (p.Gln1432fs)

dbSNP: rs1557322834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591524 SCV000707665 pathogenic not provided 2017-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000792583 SCV000931888 pathogenic Duchenne muscular dystrophy 2018-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1432Argfs*25) 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). This variant has not been reported in the literature in individuals with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 501338). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000591524 SCV002018583 pathogenic not provided 2021-09-03 criteria provided, single submitter clinical testing

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