ClinVar Miner

Submissions for variant NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) (rs77375493)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 19
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000015769 SCV000839961 pathogenic Polycythemia vera 2018-02-08 criteria provided, single submitter clinical testing The c.1849G>T (p.V617F) variant in the JAK2 gene is commonly reported as a somatic change in myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia, primary myelofibrosis [PMID: 15781101, 15858187, 15837627, 19074595]. Recently, this variant has also been described as one of the most common drivers of age-related clonal hematopoiesis [PMID: 27563148]. The c.1849G>T (p.V617F) variant in the JAK2 gene is classified as a pathogenic somatic variant.
Fulgent Genetics,Fulgent Genetics RCV000763621 SCV000894475 pathogenic Primary familial polycythemia due to EPO receptor mutation; Polycythemia vera; Budd-Chiari syndrome; Myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092995 SCV001249759 pathogenic not provided 2021-04-01 criteria provided, single submitter clinical testing
GeneDx RCV001092995 SCV001825403 pathogenic not provided 2021-04-09 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect: induces rapid tumorigenesis in mice, and leads to constitutive activation of the JAK2 kinase, excess JAK/STAT signaling, and increased cell survival and proliferation (Kralovics et al., 2005; James et al., 2005; Abe et al., 2009; Kapralova et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 33144682, 32581362, 31447099, 30944118, 15793561, 16762626, 19293426, 26556299, 15858187, 15860661, 15920007, 19327411, 24068492, 20182460, 16871278, 16156870, 23300178, 16926301, 16954506, 16904848, 16990759, 17194663, 17440677, 17596137, 19195039, 23057517, 23248577, 23537216, 24381227, 26228487, 28205126, 29349042, 16341032, 27777768, 19549988, 16293597, 21160067, 16755940, 22422826, 22829971, 22041374, 22818858, 23115274, 21689158, 20631743, 22571758, 20339092, 21120162, 24404189, 18394554, 16709929, 16081687, 24986690, 25157968, 19287384, 15781101, 29641446, 28596259, 23425079, 25698270)
OMIM RCV000015769 SCV000036034 pathogenic Polycythemia vera 2014-08-07 no assertion criteria provided literature only
OMIM RCV000015770 SCV000036036 pathogenic Myelofibrosis 2014-08-07 no assertion criteria provided literature only
OMIM RCV000015771 SCV000036037 pathogenic Acute myeloid leukemia 2014-08-07 no assertion criteria provided literature only
OMIM RCV000015772 SCV000036038 risk factor Budd-Chiari syndrome, susceptibility to, somatic 2014-08-07 no assertion criteria provided literature only
OMIM RCV000022627 SCV000043916 pathogenic Thrombocythemia 3 2014-08-07 no assertion criteria provided literature only
OMIM RCV000022628 SCV000043917 affects Primary familial polycythemia due to EPO receptor mutation 2014-08-07 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420273 SCV000504652 not provided Chronic myelogenous leukemia, BCR-ABL1 positive 2016-03-10 no assertion provided literature only
Database of Curated Mutations (DoCM) RCV000427081 SCV000504653 likely pathogenic Myeloproliferative disorder 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000015770 SCV000504655 likely pathogenic Myelofibrosis 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000015771 SCV000504656 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428162 SCV000504657 not provided Subacute lymphoid leukemia 2016-03-10 no assertion provided literature only
Database of Curated Mutations (DoCM) RCV000015769 SCV000504658 not provided Polycythemia vera 2016-03-10 no assertion provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003803 SCV001162249 likely pathogenic Myelofibrosis; Splenomegaly no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003804 SCV001162250 pathogenic Polycythemia no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000427081 SCV001162251 pathogenic Myeloproliferative disorder no assertion criteria provided research

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.