ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.11978C>T (p.Ala3993Val)

gnomAD frequency: 0.00001  dbSNP: rs748005307
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
Johns Hopkins Genomics, Johns Hopkins University RCV001250548 SCV001425369 uncertain significance Spinocerebellar ataxia 45 2020-05-11 criteria provided, single submitter clinical testing This FAT2 variant is absent from a large population dataset, and has not been reported in the literature to our knowledge. Two bioinformatic tools queried predict that p.Ala3993Val would be benign, and the alanine residue at this position is weakly conserved across the species assessed. Additionally, bioinformatic analysis predicts that this variant would not affect normal exon 21 splicing, although this has not been confirmed experimentally to our knowledge. This substitution occurs in the second EGF-like domain of the FAT2 protein10. Due to insufficient evidence, we consider the clinical significance of c.11978C>T to be uncertain at this time.

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.