ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5056C>T (p.Gln1686Ter)

dbSNP: rs1603631744
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990652 SCV001141669 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990652 SCV004425793 pathogenic Duchenne muscular dystrophy 2024-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1686*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 803865). For these reasons, this variant has been classified as Pathogenic.

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