ClinVar Miner

Submissions for variant NM_004972.4(JAK2):c.1177C>G (p.Leu393Val)

gnomAD frequency: 0.01376  dbSNP: rs2230723
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964504 SCV001111720 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000964504 SCV002097447 uncertain significance not provided 2024-07-11 criteria provided, single submitter clinical testing Identified as a germline alteration in individuals with polycythemia vera or secondary erythrocytosis with or without the acquired V617F variant (PMID: 27647865, 35304527); Identified in samples from diffuse large B-cell tumors, BCR-ABL1 negative and JAK2V617F negative chronic myeloproliferative neoplasms, and head and neck squamous cell carcinomas; however, one study showed no difference in distribution of this variant in patients versus controls, and patient germline samples were not tested (PMID: 22762550, 20417861, 23670291, 33792220); Functional studies indicate that the L393V variant does not seem to synergize in augmenting signaling of the acquired V617F variant (PMID: 27647865); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23670291, 33792220, 20417861, 31676277, 34426522, 27647865, 22762550, 34958119, 35304527, 37834019, 37762110)
CeGaT Center for Human Genetics Tuebingen RCV000964504 SCV004161823 benign not provided 2024-08-01 criteria provided, single submitter clinical testing JAK2: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000964504 SCV004563833 uncertain significance not provided 2023-09-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000964504 SCV005409578 uncertain significance not provided 2024-07-11 criteria provided, single submitter clinical testing BS1, BP4
ITMI RCV000121252 SCV000085423 not provided not specified 2013-09-19 no assertion provided reference population

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