ClinVar Miner

Submissions for variant NM_000133.4(F9):c.742del (p.Val248fs)

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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 RCV003785396 SCV004605010 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2024-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val248Leufs*16) 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 variant has not been reported in the literature in individuals affected with F9-related conditions. For these reasons, this variant has been classified as Pathogenic.

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