ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6906G>A (p.Trp2302Ter)

dbSNP: rs398124036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080743 SCV000112645 pathogenic not provided 2014-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089545 SCV005839368 pathogenic Duchenne muscular dystrophy 2024-07-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2302*) 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 clinical features of Becker and Duchenne muscular dystrophy (PMID: 20630757). ClinVar contains an entry for this variant (Variation ID: 94750). For these reasons, this variant has been classified as Pathogenic.

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