ClinVar Miner

Submissions for variant NM_000133.4(F9):c.268C>T (p.Gln90Ter)

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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 RCV005223736 SCV005863930 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2024-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln90*) in the F9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in F9 are known to be pathogenic (PMID: 20301668). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hemophilia B (PMID: 7937052). This variant is also known as 6693 C>T. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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