ClinVar Miner

Submissions for variant NM_057175.5(NAA15):c.908-2A>G

dbSNP: rs2110935003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Heidelberg University RCV001528176 SCV001739382 pathogenic Intellectual disability, autosomal dominant 50 2020-01-20 criteria provided, single submitter clinical testing The variant affects the canonical splice site (PVS1), it was not found in DNA extracted from the parents' blood samples (PS2), the variant is absent from controls (gnomAD; PM2) and it was already described by Cheng et al.; therefore we classified it as pathogenic according to ACMG criteria.
GeneDx RCV003227036 SCV003923428 pathogenic not provided 2023-05-05 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28191889, 33004838, 29656860)

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