ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1283del (p.Asn428fs)

dbSNP: rs2059643357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center RCV001174501 SCV001237449 pathogenic Duchenne muscular dystrophy 2019-10-10 criteria provided, single submitter research This 4 year-old male patient is suspected to have a Duchenne muscular dystrophy based on clinical data supported by histological assessment of a muscle biopsy.
Centogene AG - the Rare Disease Company RCV001174501 SCV001426628 likely pathogenic Duchenne muscular dystrophy criteria provided, single submitter clinical testing
Invitae RCV001174501 SCV001585866 pathogenic Duchenne muscular dystrophy 2022-01-14 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: 917479). This premature translational stop signal has been observed in individual(s) with DMD-related conditions (PMID: 30293248). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn428Ilefs*9) 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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