ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.35G>T (p.Gly12Val) (rs121913529)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150895 SCV000198477 pathogenic Juvenile myelomonocytic leukemia 2018-02-15 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154262 SCV000203917 pathogenic Non-small cell lung cancer 2018-02-15 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000157944 SCV000207879 pathogenic not provided 2020-01-25 criteria provided, single submitter clinical testing Observed as a somatic variant in intracranial AVM specimens and sebaceous nevi (Goss et al., 2019; Groesser et al., 2012; Levinsohn et al., 2013); Observed as a presumably somatic variant associated with malignancies including non-small cell lung cancer, pancreatic carcinoma, and ovarian carcinoma (Doebele et al., 2012; Motojima et al., 1993); Auner et al., 2009); Published functional studies demonstrated that G12V impaired function and enhanced downstream signaling (Gremer et al., 2011); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 15696205, 22669205, 21169357, 17384584, 2278970, 21975775, 25157968, 24803665, 23096712, 19047918, 19018267, 18316791, 17704260, 16618717, 19679400, 19075190, 29298116, 22897852, 22407852, 21398618, 21228335, 20609353, 19881948, 20949621, 31891627, 26372703, 22683711, 22235099, 8439212, 19358724)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000157944 SCV001746133 pathogenic not provided 2021-05-01 criteria provided, single submitter clinical testing
OMIM RCV000013413 SCV000033660 pathogenic Carcinoma of pancreas 2012-06-10 no assertion criteria provided literature only
OMIM RCV000029216 SCV000051862 pathogenic Nevus sebaceous 2012-06-10 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439750 SCV000504471 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417765 SCV000504472 pathogenic Neoplasm of the thyroid gland 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428010 SCV000504473 pathogenic Neoplasm of ovary 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439101 SCV000504474 pathogenic Neoplasm of the large intestine 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000154262 SCV000504475 likely pathogenic Non-small cell lung cancer 2016-03-10 no assertion criteria provided literature only
Yale Center for Mendelian Genomics,Yale University RCV000029216 SCV000611561 pathogenic Nevus sebaceous 2012-10-25 no assertion criteria provided literature only
OMIM RCV000585801 SCV000693724 pathogenic Cerebral arteriovenous malformation 2018-03-06 no assertion criteria provided literature only
Arin Greene Laboratory,Boston Children's Hospital, Harvard Medical School RCV000585801 SCV000992586 pathogenic Cerebral arteriovenous malformation no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000157944 SCV001553731 uncertain significance not provided no assertion criteria provided clinical testing

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.