ClinVar Miner

Submissions for variant NM_000133.4(F9):c.677G>A (p.Arg226Gln)

dbSNP: rs137852241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diagnostics Department, Viafet Genomics Laboratory RCV001727513 SCV001976456 pathogenic Hereditary factor IX deficiency disease 2016-01-11 criteria provided, single submitter clinical testing Viafet Genomics Laboratory has identified this variant in a female proband whose male offspring is presenting with Hemophilia B. This variant has been identified in several patients affected with Hemophilia B (PMIDs: 22639855 and 32875744).
OMIM RCV000011337 SCV000031568 pathogenic Hemophilia b(m) 1993-07-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004752695 SCV005345728 pathogenic F9-related disorder 2024-03-27 no assertion criteria provided clinical testing The F9 c.677G>A variant is predicted to result in the amino acid substitution p.Arg226Gln. This variant, and other substitutions of amino acid residue p.Arg226, including p.Arg226Gly, p.Arg226Trp, p.Arg226Pro, and p.Arg226Leu, have been reported in many patients with mostly severe hemophilia B (see the Factor IX Gene (F9) Variant Database, http://www.factorix.org/; Hamasaki-Katagiri et al. 2012. PubMed ID: 22639855; Giannelli et al. 1994. PubMed ID: 7937052; Huang et al. 2020. PubMed ID: 32875744). 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.

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