ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5139del (p.Glu1714fs)

dbSNP: rs1557304860
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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) RCV000726659 SCV000702019 pathogenic not provided 2016-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591154 SCV000751483 pathogenic Duchenne muscular dystrophy 2017-12-11 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 reported in an individual with Duchenne muscular dystrophy (PMID: 15351422). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1714Lysfs*7) in the DMD gene. It is expected to result in an absent or disrupted protein product.

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