ClinVar Miner

Submissions for variant NM_019616.4(F7):c.911G>A (p.Arg304Gln)

gnomAD frequency: 0.00006  dbSNP: rs146698837
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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 RCV002245393 SCV002515618 uncertain significance Congenital factor VII deficiency no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004753545 SCV005365791 uncertain significance F7-related disorder 2024-07-25 no assertion criteria provided clinical testing The F7 c.977G>A variant is predicted to result in the amino acid substitution p.Arg326Gln. This variant was reported in individuals with Factor VII deficiency (referred to as p.Arg266Gln, Herrmann et al. 2009. PubMed ID: 18976247; Preisler et al. 2024. PubMed ID: 38397060). This variant is reported in 0.070% of alleles in individuals of East Asian descent in gnomAD. 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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