ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1108C>T (p.Gln370Ter)

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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 RCV003050659 SCV003445847 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2022-07-02 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with hemophilia B (PMID: 7937052). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the F9 protein in which other variant(s) (p.Trp453*) have been determined to be pathogenic (PMID: 7937052, 22103590; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln370*) in the F9 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 92 amino acid(s) of the F9 protein.

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