ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1094C>G (p.Ser365Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003782493 SCV004577911 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-03-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser365*) in the F9 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 97 amino acid(s) of the F9 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with hemophilia B (PMID: 30648777, 34880139). For these reasons, this variant has been classified as Pathogenic.

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