ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)

dbSNP: rs128625229
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000150056 SCV000112720 pathogenic not provided 2017-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000011962 SCV000952089 pathogenic Duchenne muscular dystrophy 2024-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2982*) 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 premature translational stop signal has been observed in individuals with Duchenne muscular dystrophy (PMID: 1549596, 21396098, 21515508, 23536893, 26968818, 28859693). ClinVar contains an entry for this variant (Variation ID: 11211). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000150056 SCV002019401 pathogenic not provided 2023-01-23 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000011962 SCV002769628 pathogenic Duchenne muscular dystrophy 2022-12-16 criteria provided, single submitter clinical testing PVS1, PM2, PP5
Athena Diagnostics RCV000150056 SCV004229587 pathogenic not provided 2022-09-29 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has been identified in multiple unrelated males with Duchenne muscular dystrophy and at least one individual with dilated cardiomyopathy. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).
OMIM RCV000011962 SCV000032196 pathogenic Duchenne muscular dystrophy 1992-03-15 no assertion criteria provided literature only
Natera, Inc. RCV001831560 SCV002080216 pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-01-31 no assertion criteria provided clinical testing

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