ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1161del (p.Lys387fs)

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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 RCV003807642 SCV004605601 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys387Asnfs*39) in the F9 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acid(s) of the F9 protein. 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. This variant disrupts a region of the F9 protein in which other variant(s) (p.Met394Ile) have been determined to be pathogenic (PMID: 8217825, 19699296; 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. For these reasons, this variant has been classified as Pathogenic.

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