ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9224+5G>A

dbSNP: rs1556503812
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589795 SCV001815257 likely pathogenic not provided 2019-10-15 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both in silico predictors and evolutionary conservation support a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 7668256, 27350676)
3billion, Medical Genetics RCV001810102 SCV002058404 likely pathogenic Duchenne muscular dystrophy 2024-07-30 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v4.0.0 dataset. In silico tools predict the variant to alter splicing and produce an abnormal transcript [SpliceAI: 0.91 (>=0.2)]. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV001213207). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Revvity Omics, Revvity RCV001589795 SCV003829333 likely pathogenic not provided 2022-11-29 criteria provided, single submitter clinical testing

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