ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.488G>A (p.Trp163Ter)

dbSNP: rs2077774135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222995 SCV001395123 pathogenic Duchenne muscular dystrophy 2021-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp163*) 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 Duchenne muscular dystrophy (DMD) (PMID: 28859693). ClinVar contains an entry for this variant (Variation ID: 951145). For these reasons, this variant has been classified as Pathogenic.

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