ClinVar Miner

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

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000420273 SCV000504652 not provided Chronic myelogenous leukemia 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
Fulgent Genetics,Fulgent Genetics RCV000763621 SCV000894475 pathogenic Familial erythrocytosis, 1; Polycythemia vera; Budd-Chiari syndrome; Myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3 2018-10-31 criteria provided, single submitter clinical testing
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.
Illumina Clinical Services Laboratory,Illumina RCV000279716 SCV000480441 pathogenic Budd-Chiari syndrome 2016-06-14 criteria provided, single submitter clinical testing The c.1849G>T (p.Val617Phe) variant is an established risk factor for Budd-Chiari syndrome (BCS) and well-known pathogenic variant for myeloproliferative disorders. Across a small selection of available literature, the p.Val617Phe variant was observed in 51 of 515 patients with BCS, where 27 of the 51 had a concurrent myeloproliferative disorder (Patel et al. 2006; Colaizzo et al. 2008; Sozer et al. 2009; Cheng et al. 2013; Wang et al. 2014). The variant was absent from 83 controls and is reported at a frequency of 0.00083 in the European (Non-Finnish) population of the Exome Aggregation Consortium. Based on the evidence the p.Val617Phe variant is classified as pathogenic for polycythemia vera and as a risk factor for Budd-Chiari syndrome.
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 Familial erythrocytosis, 1 2014-08-07 no assertion criteria provided literature only

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