ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter)

dbSNP: rs201361100
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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) RCV000179207 SCV000231417 pathogenic not provided 2014-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179209 SCV000550252 pathogenic Duchenne muscular dystrophy 2017-04-01 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. This particular variant has been reported in the literature in an individual affected with Duchenne muscular dystrophy (PMID: 17880784). This sequence change creates a premature translational stop signal at codon 2886 (p.Gln2886*) of the DMD gene. It is expected to result in an absent or disrupted protein product.

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