ClinVar Miner

Submissions for variant NM_057175.5(NAA15):c.1009_1012del (p.Glu337fs)

dbSNP: rs1553996086
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000677628 SCV002568123 pathogenic Intellectual disability, autosomal dominant 50 2022-05-10 criteria provided, single submitter clinical testing PVS2, PS2, PS4, PM2
Ambry Genetics RCV004957982 SCV005458517 pathogenic Inborn genetic diseases 2024-07-19 criteria provided, single submitter clinical testing The c.1009_1012delGAAA (p.E337Rfs*5) alteration, located in exon 9 (coding exon 9) of the NAA15 gene, consists of a deletion of 4 nucleotides from position 1009 to 1012, causing a translational frameshift with a predicted alternate stop codon after 5 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been determined to be the result of a de novo mutation in multiple individuals with features consistent with NAA15-related neurodevelopmental disorder (Zaidi, 2013; Cheng, 2018; Ritter, 2021). Functional analysis of patient derived cells showed degradation of the mutant NAA15 mRNA, suggesting nonsense-mediated decay (Cheng, 2018). Based on the available evidence, this alteration is classified as pathogenic.
OMIM RCV000677628 SCV000803757 pathogenic Intellectual disability, autosomal dominant 50 2021-07-07 no assertion criteria provided literature only

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.