ClinVar Miner

Submissions for variant NM_000133.4(F9):c.-17A>G

dbSNP: rs1927322926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003764554 SCV004571521 likely pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-01-30 criteria provided, single submitter clinical testing Studies have shown that this variant does not significantly alter or has an unclear effect on F9 gene expression (PMID: 31395865). This variant occurs in a non-coding region of the F9 gene. It does not change the encoded amino acid sequence of the F9 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with hemophilia B (PMID: 2917196, 17014892). This variant is also known as A13G. ClinVar contains an entry for this variant (Variation ID: 10646). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV004791217 SCV005413440 likely pathogenic not provided 2024-07-11 criteria provided, single submitter clinical testing PP4, PM1, PM2, PS4_moderate
OMIM RCV000011392 SCV000031624 pathogenic Hemophilia B leyden 1989-02-15 no assertion criteria provided literature only

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