ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4471_4472del (p.Lys1491fs)

dbSNP: rs398123957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080617 SCV000112519 pathogenic not provided 2013-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001045796 SCV001209669 pathogenic Duchenne muscular dystrophy 2020-08-14 criteria provided, single submitter clinical testing 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 clinical features of DMD-related conditions (PMID: 22161109). This variant is also described as c.4470-4471delAA in the literature. ClinVar contains an entry for this variant (Variation ID: 94627). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1491Glufs*19) in the DMD gene. It is expected to result in an absent or disrupted protein product.

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