ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1556G>A (p.Trp519Ter)

gnomAD frequency: 0.00001  dbSNP: rs201007090
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001247722 SCV001421162 pathogenic not provided 2024-02-04 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. Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). This variant is present in population databases (rs201007090, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with factor XI deficiency (PMID: 11122101, 20015217). This variant is also known as p.501*. ClinVar contains an entry for this variant (Variation ID: 188887). For these reasons, this variant has been classified as Pathogenic.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000169241 SCV004013066 pathogenic Hereditary factor XI deficiency disease criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001247722 SCV005413680 pathogenic not provided 2024-05-09 criteria provided, single submitter clinical testing PP5, PM1_supporting, PM2_moderate, PM3_very_strong, PS4_moderate, PVS1
Natera, Inc. RCV001835701 SCV002082952 pathogenic Plasma factor XI deficiency 2020-03-20 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.