ClinVar Miner

Submissions for variant NM_000128.3(F11):c.1556G>A (p.Trp519Ter) (rs201007090)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169241 SCV000220515 likely pathogenic Hereditary factor XI deficiency disease 2014-07-16 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000169241 SCV000893677 pathogenic Hereditary factor XI deficiency disease 2018-10-31 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851708 SCV000899526 pathogenic Abnormal bleeding 2019-02-01 criteria provided, single submitter research
Invitae RCV001247722 SCV001421162 pathogenic not provided 2020-03-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp519*) in the F11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201007090, ExAC 0.03%). This variant has been observed in individuals affected with factor XI deficiency (PMID: 11122101, 20015217). This variant is also known as p.501* in the literature. ClinVar contains an entry for this variant (Variation ID: 188887). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). For these reasons, this variant has been classified as Pathogenic.

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