ClinVar Miner

Submissions for variant NM_001242882.2(NAXD):c.591C>G (p.Asp197Glu)

dbSNP: rs559466039
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
Neuberg Centre For Genomic Medicine, NCGM RCV002510686 SCV002820199 uncertain significance NAD(P)HX dehydratase deficiency criteria provided, single submitter clinical testing The missense variant c.645C>G (p.Asp215Glu) in NAXD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asp215Glu variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.03621% is reported in gnomAD. The amino acid Asp at position 215 is changed to a Glu changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is variable across species. The amino acid change p.Asp215Glu in NAXD is predicted as conserved by PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance .
Labcorp Genetics (formerly Invitae), Labcorp RCV003546858 SCV004254583 likely benign not provided 2024-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958563 SCV005458197 likely benign Inborn genetic diseases 2024-08-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.