ClinVar Miner

Submissions for variant NM_000133.4(F9):c.838+1_838+16del

dbSNP: rs2148367304
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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 RCV001912843 SCV002175219 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2024-01-11 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 7 of the F9 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with hemophilia B (PMID: 8217825, 10090477). ClinVar contains an entry for this variant (Variation ID: 1398268). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant disrupts a region of the F9 protein in which other variant(s) (p.Arg379*) have been determined to be pathogenic (PMID: 1969838, 8091381, 22544209, 31026269). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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