ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter)

dbSNP: rs2065150560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264104 SCV001442204 likely pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy 2019-07-19 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814298 SCV001755626 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Invitae RCV003621592 SCV004412549 pathogenic Duchenne muscular dystrophy 2022-11-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu3005*) 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 has not been reported in the literature in individuals affected with DMD-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 984098).

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