ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.1103C>T (p.Ala368Val)

dbSNP: rs1033001525
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
Molecular Genetics, Royal Melbourne Hospital RCV002225166 SCV002503678 uncertain significance Glutamate formiminotransferase deficiency 2021-04-09 criteria provided, single submitter clinical testing This sequence change is predicted to replace alanine with valine at codon 368 of the FTCD protein (p.(Ala368Val)). The alanine residue is moderately conserved (100 vertebrates, UCSC), and is located in the cyclodeaminase domain. There is a moderate physicochemical difference between alanine and valine. The variant is present in a single individual in a large population cohort (1/151,690 alleles in gnomAD v3.1), and has not been reported in the relevant medical literature and databases. Multiple lines of computational evidence have conflicting predictions for the missense substitution (3/6 algorithms predict deleterious). Based on the classification scheme RMH Modified ACMG Guidelines v1.3.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2_Supporting.
Fulgent Genetics, Fulgent Genetics RCV002225166 SCV002785126 uncertain significance Glutamate formiminotransferase deficiency 2021-07-15 criteria provided, single submitter clinical testing

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.