ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) (rs128626249)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000711463 SCV000112577 pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711463 SCV000841831 pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing
Invitae RCV000012009 SCV001590857 pathogenic Duchenne muscular dystrophy 2020-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1967*) in the DMD gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs128626249, ExAC 0.01%). This variant has been observed in individual(s) with Duchenne or Becker muscular dystrophy (PMID: 8401539, 18652600, 30833962). This variant is also known as c.6107C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 11258). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012009 SCV000032243 pathogenic Duchenne muscular dystrophy 1993-01-01 no assertion criteria provided literature only
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000012009 SCV000747826 uncertain significance Duchenne muscular dystrophy 2017-11-30 no assertion criteria provided clinical testing The observed variant c.5899C>T (p.Arg1967Ter) is not reported in 1000 Genomes and its minor allele frequency in ExAC databases is 0.00001328. The in silico prediction of the variant is disease causing by MutationTaster2.

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