ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4858G>T (p.Glu1620Ter)

dbSNP: rs1060502645
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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 RCV000463648 SCV000550304 pathogenic Duchenne muscular dystrophy 2019-05-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant has been observed in an individual affected with Duchenne or Becker muscular dystrophy (PMID: 27122458). ClinVar contains an entry for this variant (Variation ID: 409919). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1620*) in the DMD gene. It is expected to result in an absent or disrupted protein product.

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