ClinVar Miner

Submissions for variant NM_000132.4(F8):c.248C>G (p.Pro83Arg)

gnomAD frequency: 0.00003  dbSNP: rs781974394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245391 SCV002515611 likely pathogenic Hereditary factor VIII deficiency disease no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003896085 SCV004716199 uncertain significance F8-related disorder 2023-10-19 no assertion criteria provided clinical testing The F8 c.248C>G variant is predicted to result in the amino acid substitution p.Pro83Arg. This variant has been documented in a patient with hemophilia A (Venceslá et al. 2008. PubMed ID: 18184865; reported using legacy nomenclature p.Pro64Arg). This variant is reported in 0.013% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-154227771-G-C). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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