ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.464C>T (p.Pro155Leu) (rs367719489)

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
CSER_CC_NCGL; University of Washington Medical Center RCV000210894 SCV000264605 uncertain significance Gastrointestinal stromal tumor, familial 2015-12-01 criteria provided, single submitter research
Invitae RCV000456468 SCV000550063 uncertain significance Gastrointestinal stroma tumor 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 155 of the KIT protein (p.Pro155Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs367719489, ExAC 0.03%). This variant has not been reported in the literature in individuals with KIT-related disease. ClinVar contains an entry for this variant (Variation ID: 225286). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, this variant has uncertain impact on KIT function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of 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.