ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.12605C>T (p.Thr4202Ile) (rs1173461199)

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
GeneDx RCV000521612 SCV000619595 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FAT4 gene. The T4202I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T4202I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Threonine are tolerated across species. However, the T4202I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.