ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1195T>C (p.Phe399Leu) (rs144764160)

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 RCV000235963 SCV000292724 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing The F399L variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The 1000 Genomes Project reports F399L was observed in 2/170 (1.2%) alleles from individuals of Mende background in the Sierra Leone. The F399L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved and Leucine is observed at this position in other species. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation 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.