ClinVar Miner

Submissions for variant NM_000133.4(F9):c.471T>C (p.Cys157=)

dbSNP: rs1603265493
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Total submissions: 2
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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 RCV004812370 SCV005437147 uncertain significance Hereditary factor IX deficiency disease 2024-12-06 reviewed by expert panel curation The F9 c.471T>C (p.Cys157=) variant is absent from males in population databases (gnomAD v2.1.1/gnomAD v3). The Cys157= synonymous variant is predicted to have no impact on splicing based on SpliceAI prediction. We are not aware of any cases of hemophilia B in the literature or in databases at this time. In summary, based on the evidence available at this time, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Coagulation Factor Deficiency Variant Curation Expert Panel for F9 (Released 10/5/2023): PM2_Supporting, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001462720 SCV001666645 likely benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-11-02 criteria provided, single submitter clinical testing

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