ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2017C>T (p.Gln673Ter)

dbSNP: rs128626232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000011984 SCV001141748 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000011984 SCV001587735 pathogenic Duchenne muscular dystrophy 2020-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln673*) in the DMD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 7649554). ClinVar contains an entry for this variant (Variation ID: 11233). 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 RCV000011984 SCV000032218 pathogenic Duchenne muscular dystrophy 1995-09-01 no assertion criteria provided literature only

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