ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1067G>A (p.Trp356Ter)

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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 RCV003066390 SCV003445266 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2022-07-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as Trp 310 Stop or Trp356Stop. This premature translational stop signal has been observed in individuals with hemophilia B (PMID: 10094553, 24375831). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp356*) in the F9 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 106 amino acid(s) of the F9 protein.

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