ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)

dbSNP: rs398124074
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080803 SCV000112705 pathogenic not provided 2017-12-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000179204 SCV000255754 pathogenic Duchenne muscular dystrophy 2013-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179204 SCV000550335 pathogenic Duchenne muscular dystrophy 2024-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2870*) 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: 11524473, 16834926, 19783145, 20098710, 20485447, 21396098, 23588064). ClinVar contains an entry for this variant (Variation ID: 94810). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000080803 SCV001764249 pathogenic not provided 2017-11-20 criteria provided, single submitter clinical testing Based on the understanding of this genetic alteration, it may be amenable to nonsense read-through therapy that is currently available or in clinical trial; This variant is associated with the following publications: (PMID: 27593222, 26968818, 19783145, 11524473, 25525159, 23588064, 20485447, 17253928, 12632325)
Revvity Omics, Revvity RCV000080803 SCV002022894 pathogenic not provided 2023-01-17 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000179204 SCV002769625 pathogenic Duchenne muscular dystrophy 2022-12-16 criteria provided, single submitter clinical testing PVS1, PM2, PP5
PreventionGenetics, part of Exact Sciences RCV004528291 SCV004110988 pathogenic DMD-related disorder 2023-03-03 criteria provided, single submitter clinical testing The DMD c.8608C>T variant is predicted to result in premature protein termination (p.Arg2870*). This variant has been reported in many individuals with Duchenne muscular dystrophy (reported as "8921C>T; R2905X" in Mendell et al. 2001. PubMed ID: 11524473; Cho et al. 2017. PubMed ID: 27593222; Table S3 in Fan et al. 2021. PubMed ID: 34006472). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in DMD are expected to be pathogenic, and this variant has been classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/94810). This variant is interpreted as pathogenic.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV000179204 SCV001482345 pathogenic Duchenne muscular dystrophy 2019-05-31 no assertion criteria provided research
Natera, Inc. RCV001831875 SCV002087660 pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-15 no assertion criteria provided clinical testing

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