ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.347A>G (p.Asn116Ser)

dbSNP: rs202247812
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
GeneDx RCV004700460 SCV005201640 likely pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect: Erk activation, active Ras-GTP levels, and mild cell proliferation (PMID: 22302539); Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; 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: 22302539)
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144422 SCV000189477 not provided Noonan syndrome 1 no assertion provided not provided

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.