ClinVar Miner

Submissions for variant NM_000128.4(F11):c.408C>A (p.Cys136Ter)

gnomAD frequency: 0.00001  dbSNP: rs143648758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169275 SCV000220580 likely pathogenic Hereditary factor XI deficiency disease 2014-08-07 criteria provided, single submitter literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851782 SCV000899717 pathogenic Abnormal bleeding 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002516531 SCV003525622 pathogenic not provided 2022-02-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys136*) in the F11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). This variant is present in population databases (rs143648758, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 188914). This variant is also known as Cys118stop. This premature translational stop signal has been observed in individual(s) with autosomal recessive factor XI deficiency (PMID: 15531455).

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