ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2150G>T (p.Ser717Ile)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002580000 SCV002930174 uncertain significance Gastrointestinal stromal tumor 2022-03-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 717 of the KIT protein (p.Ser717Ile).
Ambry Genetics RCV004064436 SCV005033280 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-22 criteria provided, single submitter clinical testing The p.S717I variant (also known as c.2150G>T), located in coding exon 15 of the KIT gene, results from a G to T substitution at nucleotide position 2150. The serine at codon 717 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.