ClinVar Miner

Submissions for variant NM_000133.4(F9):c.287A>C (p.Gln96Pro)

dbSNP: rs137852231
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004783723 SCV005396197 likely pathogenic not provided 2024-05-08 criteria provided, single submitter clinical testing Published functional studies demonstrate that Q96P shows delayed activation by Factor XIa and reduced activity compared to wild-type Factor IX (PMID: 2306516); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22639855, 31253089, 2306516)
OMIM RCV000011323 SCV000031554 pathogenic Hereditary factor IX deficiency disease 2012-11-12 no assertion criteria provided literature only

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