ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2032C>T (p.Gln678Ter)

dbSNP: rs398123872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175181 SCV000226621 pathogenic not provided 2012-10-05 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814052 SCV001755572 pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003512014 SCV004298925 pathogenic Duchenne muscular dystrophy 2023-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln678*) 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 individual(s) with DMD-related conditions (PMID: 23536893). ClinVar contains an entry for this variant (Variation ID: 94489). For these reasons, this variant has been classified as Pathogenic.

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