ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1286C>A (p.Ser429Ter)

dbSNP: rs398123853
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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) RCV000080440 SCV000112342 pathogenic not provided 2017-03-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000080440 SCV002018621 pathogenic not provided 2023-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003512012 SCV004298933 pathogenic Duchenne muscular dystrophy 2023-08-08 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 19937601). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 94455). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser429*) 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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