ClinVar Miner

Submissions for variant NM_057175.5(NAA15):c.1165C>T (p.Gln389Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465446 SCV002760132 pathogenic Intellectual disability, autosomal dominant 50 2022-11-29 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003574975 SCV004336795 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln389*) in the NAA15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NAA15 are known to be pathogenic (PMID: 28191889, 29656860). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autism spectrum disorder (PMID: 35982160). ClinVar contains an entry for this variant (Variation ID: 1802607). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003574975 SCV005328049 pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35982160)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.