ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2914del (p.Tyr972fs)

dbSNP: rs1569564281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730416 SCV000858150 pathogenic not provided 2017-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000730416 SCV002019340 pathogenic not provided 2020-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868955 SCV002234649 pathogenic Duchenne muscular dystrophy 2021-06-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 594994). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr972Metfs*32) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885).

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