ClinVar Miner

Submissions for variant NM_000132.4(F8):c.541G>A (p.Val181Met)

dbSNP: rs137852394
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851946 SCV000899350 pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003398478 SCV004121397 pathogenic F8-related disorder 2022-12-05 criteria provided, single submitter clinical testing The F8 c.541G>A variant is predicted to result in the amino acid substitution p.Val181Met. This variant is also described using legacy nomenclature as p.Val162Met and has been reported in patients with hemophilia A (Diamond et al. 1992. PubMed ID: 1301932; Downes et al. 2019. PubMed ID: 31064749. Table S3; Green et al. 2008. PubMed ID: 18691168. Table S1; F8 database: http://www.factorviii-db.org/index.php). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.
OMIM RCV000010890 SCV000031117 pathogenic Hereditary factor VIII deficiency disease 1992-01-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701720 SCV001928917 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701720 SCV001956550 pathogenic not provided no assertion criteria provided clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000010890 SCV002515606 pathogenic Hereditary factor VIII deficiency disease no assertion criteria provided research

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