ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1024A>G (p.Thr342Ala)

dbSNP: rs1603267362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002489512 SCV002788450 likely pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect; Warfarin sensitivity, X-linked 2024-03-22 criteria provided, single submitter clinical testing
GeneDx RCV004822284 SCV005442885 likely pathogenic not provided 2024-07-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19699296, 30817849, 29517974, 32581362, 8594556, 31064749, 2066105, 1864609)
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003927 SCV001161884 pathogenic Hereditary factor IX deficiency disease no assertion criteria provided research

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