ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)

dbSNP: rs1603636541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990722 SCV001141750 likely pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990722 SCV002241476 pathogenic Duchenne muscular dystrophy 2022-08-09 criteria provided, single submitter clinical testing 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 DMD-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 803923). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Lys632*) 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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