ClinVar Miner

Submissions for variant NM_022787.4(NMNAT1):c.676del (p.Ile226fs)

dbSNP: rs763438353
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001921450 SCV002204368 pathogenic Leber congenital amaurosis 9 2022-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NMNAT1 protein in which other variant(s) (p.Leu253Phefs*5) have been determined to be pathogenic (PMID: 32865313). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with NMNAT1-related conditions. This variant is present in population databases (rs763438353, gnomAD 0.0009%). This sequence change results in a frameshift in the NMNAT1 gene (p.Ile226Serfs*60). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acid(s) of the NMNAT1 protein and extend the protein by 5 additional amino acid residues.

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.