ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.7652G>A (p.Arg2551Lys)

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
Neuberg Centre For Genomic Medicine, NCGM RCV004785857 SCV005400936 uncertain significance Spinocerebellar ataxia 45 2023-06-22 criteria provided, single submitter clinical testing The observed missense variant c.7652G>A(p.Arg2551Lys) in FAT2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The (p.Arg2551Lys) variant is reported with 0.0004% allele frequencyin gnomAD Exomes. The amino acid Arg at position 2551 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. The reference amino acid p.Arg2551Lys in FAT2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates.Computational evidence (Polyphen-Benign, SIFT-Tolerated and Mutation Taster-disease causing) predicts conflicting evidence on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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.