ClinVar Miner

Submissions for variant NM_000506.5(F2):c.1598G>A (p.Arg533Gln)

dbSNP: rs1361766713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001420458 SCV001622494 uncertain significance Congenital prothrombin deficiency 2021-04-28 criteria provided, single submitter research
GeneDx RCV001751760 SCV001997167 uncertain significance not provided 2020-01-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002243199 SCV002515799 uncertain significance Thrombophilia due to thrombin defect no assertion criteria provided research

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