ClinVar Miner

Submissions for variant NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)

gnomAD frequency: 0.00012  dbSNP: rs371526758
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255071 SCV000322384 pathogenic not provided 2019-04-30 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 111 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database(Stenson et al., 2014); This variant is associated with the following publications: (PMID: 22842230, 22842231, 22842229, 29178642, 28559085, 31589614, 32865313)
Invitae RCV000030768 SCV001407778 pathogenic Leber congenital amaurosis 9 2023-09-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs371526758, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Trp169*) in the NMNAT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the NMNAT1 protein. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 265453). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 22842229, 22842230, 22842231, 29178642). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.
OMIM RCV000030768 SCV000053429 pathogenic Leber congenital amaurosis 9 2012-09-01 no assertion criteria provided literature only
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV000030768 SCV001433016 pathogenic Leber congenital amaurosis 9 no assertion criteria provided research

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.