ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9852G>A (p.Trp3284Ter)

dbSNP: rs2041309291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064404 SCV001229306 pathogenic Duchenne muscular dystrophy 2023-05-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 858516). A different variant (c.9851G>A) giving rise to the same protein effect has been determined to be pathogenic (PMID: 18652600). This suggests that this variant is also likely to be causative of disease. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp3284*) 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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