ClinVar Miner

Submissions for variant NM_000133.4(F9):c.253-1G>C

dbSNP: rs1434866164
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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 RCV000696357 SCV000824914 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-08-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the F9 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in F9 are known to be pathogenic (PMID: 20301668). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 574429). This variant is also known as 6677G>C. Disruption of this splice site has been observed in individuals with hemophilia B (PMID: 8434583, 8680410). This variant is not present in population databases (gnomAD no frequency).

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