ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter)

dbSNP: rs773643220
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516473 SCV000613126 pathogenic not provided 2016-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000693813 SCV000822232 pathogenic Duchenne muscular dystrophy 2024-06-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1951*) 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 muscular dystrophy (PMID: 9195228, 16834926, 27593222). ClinVar contains an entry for this variant (Variation ID: 447260). For these reasons, this variant has been classified as Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000720 SCV001157765 pathogenic not specified 2018-07-31 criteria provided, single submitter clinical testing The DMD c.5851C>T; p.Gln1951Ter variant (rs773643220) has been described in the medical literature in at least one individual affected with Duchenne muscular dystrophy (DMD; Cho 2017). It is reported as pathogenic in ClinVar (Variation ID: 447260) and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream truncating variants have been described in individuals affected with DMD and are considered pathogenic (Cho 2017, Flanigan 2009). Based on available information, the p.Gln1951Ter variant is considered pathogenic. REFERENCES Cho A et al. Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. Muscle Nerve. 2017 May;55(5):727-734. Flanigan K et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat. 2009 Dec;30(12):1657-66.
Revvity Omics, Revvity RCV000516473 SCV002022147 pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing

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