ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)

dbSNP: rs128626241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000011999 SCV001141757 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001781237 SCV002022804 pathogenic not provided 2022-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000011999 SCV003445062 pathogenic Duchenne muscular dystrophy 2024-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln497*) 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 (PMID: 7951253). ClinVar contains an entry for this variant (Variation ID: 11247). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011999 SCV000032233 pathogenic Duchenne muscular dystrophy 1993-11-01 no assertion criteria provided literature only

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