ClinVar Miner

Submissions for variant NM_000133.4(F9):c.499C>T (p.Gln167Ter)

dbSNP: rs2148361240
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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 RCV001982942 SCV002241935 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2021-01-14 criteria provided, single submitter clinical testing Experimental studies have shown that this variant disrupts mRNA splicing and is expected to lead to the loss of protein expression (PMID: 27227676). This variant has been observed in individual(s) with hemophilia B (PMID: 27227676). This variant is also known as c.17776C>T, Q121Stop in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln167*) 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). For these reasons, this variant has been classified as Pathogenic.

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