ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)

dbSNP: rs886039536
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255926 SCV000322285 pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing The Q1087X nonsense variant in the DMD gene has been reported previously in association with dystrophinopathy, most often with Duchenne muscular dystrophy (Nigro et al., 1994; Torella et al., 2010; Aartsma-Rus et al., 2006). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the Q1087X pathogenic variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Revvity Omics, Revvity RCV000255926 SCV002018665 pathogenic not provided 2023-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859480 SCV002137249 pathogenic Duchenne muscular dystrophy 2022-07-04 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with Duchenne muscular dystrophy (PMID: 7849724, 31081998). This sequence change creates a premature translational stop signal (p.Gln1087*) 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). ClinVar contains an entry for this variant (Variation ID: 265414). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001833300 SCV002085473 pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-07-30 no assertion criteria provided clinical testing

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