ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)

dbSNP: rs886041344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000380011 SCV000329820 pathogenic not provided 2018-04-26 criteria provided, single submitter clinical testing The S622X nonsense variant in the DMD gene has been reported previously in association with Duchenne muscular dystrophy (Nigro et al., 1994). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the S622X 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000380011 SCV001472257 pathogenic not provided 2019-09-17 criteria provided, single submitter clinical testing The DMD c.1865C>G; p.Ser622Ter variant (rs886041344) is reported in the literature in an individual affected with Duchenne muscular dystrophy (Nigro 1994). This variant is absent from general population databases (Exome Variant Server, 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. Based on available information, this variant is considered to be pathogenic. References: Nigro V et al. Novel small mutations along the DMD/BMD gene associated with different phenotypes. Hum Mol Genet. 1994 Oct;3(10):1907-8.
Labcorp Genetics (formerly Invitae), Labcorp RCV003512028 SCV004298926 pathogenic Duchenne muscular dystrophy 2022-10-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 280051). This premature translational stop signal has been observed in individual(s) with DMD-related conditions (PMID: 7849724). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser622*) 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).

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