ClinVar Miner

Submissions for variant NM_000128.3(F11):c.438C>A (p.Cys146Ter) (rs121965066)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000012671 SCV000899342 likely pathogenic Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
Invitae RCV001228574 SCV001400977 pathogenic not provided 2019-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys146*) in the F11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121965066, ExAC 0.006%). This variant has been observed in several individuals affected with Factor XI deficiency (PMID: 7669672, 16835901). This variant is also known as p.Cys128* in the literature. ClinVar contains an entry for this variant (Variation ID: 11896). Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012671 SCV000032906 pathogenic Hereditary factor XI deficiency disease 2004-06-01 no assertion criteria provided literature only

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