ClinVar Miner

Submissions for variant NM_000133.4(F9):c.545_546del (p.Ser182fs)

dbSNP: rs1433656857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068935 SCV001234072 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2019-03-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in F9 are known to be pathogenic (PMID: 20301668). This variant has been observed in several individuals affected with Hemophilia B (PMID: 22544209, 24375831). This variant is also known as p.Ser136CysfsX6 and 20387-8 del2 in the literature. This sequence change creates a premature translational stop signal (p.Ser182Cysfs*6) in the F9 gene. It is expected to result in an absent or disrupted protein product.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811640 SCV002049598 pathogenic not provided 2021-07-23 criteria provided, single submitter clinical testing The F9 c.545_546delCT; p.Ser182CysfsTer6 variant is reported in the literature in multiple individuals affected with severe hemophilia B (Awidi 2011, Yu 2012, Li 2014) and is also reported in F9 Variant Database and ClinVar (Variation ID: 862249). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by deleting two nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Awidi A et al. FIX mutation spectrum in haemophilia B patients from Jordan: identification of three novel mutations. Haemophilia. 2011 Jan;17(1):162-3. PMID: 20695909 Yu T et al. Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations. Pathology. 2012 Jun;44(4):342-7. PMID: 22544209 Li T et al. Mutation analysis of a cohort of US patients with hemophilia B. Am J Hematol. 2014 Apr;89(4):375-9. PMID: 24375831 Link to F9 variant database: https://f9-db.eahad.org/advance_search_results.php

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