ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.473A>T (p.Lys158Met)

gnomAD frequency: 0.00003  dbSNP: rs775817289
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000704258 SCV000833200 uncertain significance Gastrointestinal stromal tumor 2023-04-26 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 580655). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs775817289, gnomAD 0.002%). This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 158 of the KIT protein (p.Lys158Met).

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.