ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)

dbSNP: rs869025608
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254287 SCV002525686 pathogenic not provided 2021-04-26 criteria provided, single submitter clinical testing This variant has been previously reported in several unrelated individuals with arteriovenous malformations, and in vitro functional studies have demonstrated that the p.Lys57Asn substitution results in activation of downstream signaling (PMID: 28190454, PMID: 29461977). This variant has not been observed in large population studies (Genome Aggregation Database v2.1.1).
GeneReviews RCV000208748 SCV000264640 not provided Cardio-facio-cutaneous syndrome no assertion provided literature only
Database of Curated Mutations (DoCM) RCV000438528 SCV000504534 likely pathogenic Melanoma 2014-12-26 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421288 SCV000504535 pathogenic Non-small cell lung carcinoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428485 SCV000504536 likely pathogenic Lung adenocarcinoma 2015-07-14 no assertion criteria provided literature only
OMIM RCV002051691 SCV001364400 pathogenic Melorheostosis 2020-06-23 no assertion criteria provided literature only

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.