ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6576T>A (p.Ser2192Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003393027 SCV004119711 likely pathogenic F8-related disorder 2022-12-14 criteria provided, single submitter clinical testing The F8 c.6576T>A variant is predicted to result in the amino acid substitution p.Ser2192Arg. To our knowledge, this variant has not been reported in the literature. However, different missense variants in the same codon (c.6575G>A, p.Ser2192Asn; c.6575G>T, p.Ser2192Ile) have been reported in in individuals with Hemophilia A (Lu et al. 2018. PubMed ID: 29381227. Table S3; Liu et al. 2000. PubMed ID: 10910913; F8 database: http://www.factorviii-db.org/index.php) suggesting that substitution of amino acid residue p.Ser2192 is not tolerated. 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 likely pathogenic.

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