ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter)

dbSNP: rs2097849830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263947 SCV001442045 likely pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537663 SCV003496218 pathogenic Duchenne muscular dystrophy 2022-10-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 983942). This premature translational stop signal has been observed in individual(s) with Becker muscular dystrophy (PMID: 33420945). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1660*) 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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