ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3511G>T (p.Glu1171Ter)

dbSNP: rs1263708289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382078 SCV001580708 pathogenic Duchenne muscular dystrophy 2020-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1171*) in the DMD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 23536893, 26968818, Invitae).
Revvity Omics, Revvity RCV001780311 SCV002021112 pathogenic not provided 2022-11-23 criteria provided, single submitter clinical testing

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