ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter)

dbSNP: rs1295394996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760550 SCV000890441 pathogenic not provided 2020-09-18 criteria provided, single submitter clinical testing Reported previously in association with Duchenne muscular dystrophy (Okubo et al., 2017); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Based on the understanding of this genetic alteration, it may be amenable to nonsense read-through therapy that is currently available or in clinical trial; This variant is associated with the following publications: (PMID: 28859693)
Labcorp Genetics (formerly Invitae), Labcorp RCV000845039 SCV003444449 pathogenic Duchenne muscular dystrophy 2023-07-30 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: 620196). This premature translational stop signal has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 28859693). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1694*) 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).
GenomeConnect, ClinGen RCV000845039 SCV000986876 not provided Duchenne muscular dystrophy no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 07/03/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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