ClinVar Miner

Submissions for variant NM_000133.4(F9):c.990C>A (p.Tyr330Ter)

dbSNP: rs1928109999
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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 RCV002000163 SCV002235677 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2021-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr330*) in the F9 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 132 amino acid(s) of the F9 protein. This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with hemophilia B (PMID: 8217825). This variant is also known as 30973C>A. 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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