ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser)

dbSNP: rs756497073
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 RCV003076039 SCV003472935 uncertain significance RFT1-congenital disorder of glycosylation 2022-01-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 494 of the RFT1 protein (p.Gly494Ser). This variant is present in population databases (rs756497073, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RFT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town RCV003076039 SCV003930391 uncertain significance RFT1-congenital disorder of glycosylation 2024-05-22 criteria provided, single submitter research PM2_supporting: the highest population allele frequency in gnomAD v4.0 is 0.00009799 (0.0098%; 3/30616 alleles in South Asian population) and the variant is absent in gnomAD v3.1.2. is 0.0004798 (0.048%; 1/2084 alleles in Other population) and the variant is absent from an internal database of 1074 control alleles. PP3 met: REVEL score is 0.70. Sequencing funded by the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD): https://www.ucl.ac.uk/genomic-medicine-neuromuscular-diseases/.

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.