ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)

dbSNP: rs201366610
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727553 SCV000854782 pathogenic not provided 2017-08-15 criteria provided, single submitter clinical testing
Mendelics RCV000011973 SCV001141741 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000011973 SCV002126910 pathogenic Duchenne muscular dystrophy 2024-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg768*) 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 individual(s) with Duchenne muscular dystrophy (PMID: 8499922, 32559196). This variant is also known as 2510C>T. ClinVar contains an entry for this variant (Variation ID: 11222). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011973 SCV000032207 pathogenic Duchenne muscular dystrophy 1993-03-01 no assertion criteria provided literature only

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