ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.346A>C (p.Asn116His)

dbSNP: rs2141506264
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 RCV001590499 SCV001825584 pathogenic not provided 2024-04-19 criteria provided, single submitter clinical testing Previously reported as a somatic variant in colon adenocarcinoma, but has not been reported in the germline to our knowledge in the published literature (PMID: 28188185); Not observed at significant frequency in large population cohorts (gnomAD); The majority of missense variants in this gene are considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28188185)

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.