ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1304G>T (p.Cys435Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen RCV004577671 SCV005061648 uncertain significance Hereditary factor IX deficiency disease 2024-05-09 reviewed by expert panel curation The NM_000133.4:c.1304G> variant in F9 is a missense variant predicted to cause substitution of Cys by Phe at amino acid 435 (p.Cys435Phe). This variant has been reported in 1 proband meeting F9 phenotype criteria (PS4_Supporting; PMID: 19686262). The computational predictor REVEL gives a score of 0.965, which is above the threshold of 0.6, evidence that correlates with impact to F9 function (PP3). Another missense variant c.1304G>A (p.Cys435Tyr) in the same codon has been classified as pathogenic for hemophilia B by the ClinGen Coagulation Factor Deficiency VCEP (PM5). This variant is absent from gnomAD v2, v3 and v4. In summary, this variant meets the criteria to be classified as a variant of uncertain significance for hemophilia B based on the ACMG/AMP criteria applied, as specified by the ClinGen Coagulation Factor Deficiency VCEP: PS4_Supporting, PM2_Supporting, PP3, PM5. (Version 1.0.0, 10/05/2023)

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