ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)

dbSNP: rs1569563678
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714701 SCV000845423 pathogenic Duchenne muscular dystrophy 2018-08-07 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814224 SCV001755174 likely pathogenic Abnormality of the musculature 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000714701 SCV002247485 pathogenic Duchenne muscular dystrophy 2022-01-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 587510). This premature translational stop signal has been observed in individual(s) with Becker muscular dystrophy (PMID: 31081998). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1120*) 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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