ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.1436G>A (p.Arg479His)

gnomAD frequency: 0.00001  dbSNP: rs750919773
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240044 SCV001412965 uncertain significance Giant axonal neuropathy 1 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 479 of the GAN protein (p.Arg479His). This variant is present in population databases (rs750919773, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GAN-related conditions. ClinVar contains an entry for this variant (Variation ID: 965559). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002393614 SCV002699298 uncertain significance Inborn genetic diseases 2020-05-19 criteria provided, single submitter clinical testing The p.R479H variant (also known as c.1436G>A), located in coding exon 9 of the GAN gene, results from a G to A substitution at nucleotide position 1436. The arginine at codon 479 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.