ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2584G>T (p.Glu862Ter)

dbSNP: rs2042975774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814371 SCV001755184 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568240 SCV003445039 pathogenic Duchenne muscular dystrophy 2022-01-11 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 28859693). ClinVar contains an entry for this variant (Variation ID: 1180642). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu862*) 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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