ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)

dbSNP: rs863225005
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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 RCV000201134 SCV000255741 pathogenic Duchenne muscular dystrophy 2012-06-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733885 SCV000861988 pathogenic not provided 2018-06-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000733885 SCV000885305 pathogenic not provided 2018-06-20 criteria provided, single submitter clinical testing The DMD c.5917C>T; p.Gln1973Ter variant (rs863225005) has been described in individuals affected with Duchenne muscular dystrophy (DMD) (Buzin 2005, Flanigan 2009). It is listed in ClinVar (Variation ID: 217206) 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 nonsense variants have been reported in individuals with DMD and are considered pathogenic (see link to UMD-DMD database and references therein). Based on available information, this variant is considered pathogenic. Pathogenic variants in DMD are inherited in an X-linked manner and are associated with Duchenne muscular dystrophy (MIM: 310200), Becker muscular dystrophy (MIM: 300376), and dilated cardiomyopathy (MIM: 302045). References: Link to UMD-DMD database: http://www.umd.be/DMD/4DACTION/W_DMDT1/10 Buzin C et al. Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. Hum Mutat. 2005 Feb;25(2):177-88. 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.
GeneDx RCV000733885 SCV000890258 pathogenic not provided 2018-08-06 criteria provided, single submitter clinical testing The Q1973X variant has been reported previously in association with dystrophinopathy, most often with Duchenne muscular dystrophy (Buzin et al., 2005; Flanigan et al., 2009). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1973X variant is not observed in large population cohorts (Lek et al., 2016).

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