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 For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individuals with hemophilia B (PMID: 30648777, 34880139). This variant is not present in population databases (gnomAD no frequency). 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.

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