ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter)

dbSNP: rs146880270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000196412 SCV000255359 likely pathogenic Duchenne muscular dystrophy 2013-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000196412 SCV000550258 pathogenic Duchenne muscular dystrophy 2016-08-08 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 muscular dystrophy (PMID:25326637). This sequence change creates a premature translational stop signal at codon 1334 (p.Gly1334*) of the DMD gene. It is expected to result in an absent or disrupted protein product.

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