ClinVar Miner

Submissions for variant NM_000128.4(F11):c.769del (p.Thr259fs)

dbSNP: rs1554082832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668586 SCV000793213 likely pathogenic Hereditary factor XI deficiency disease 2017-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558499 SCV004292789 pathogenic not provided 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr259Hisfs*90) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with FXI deficiency (PMID: 19367158). ClinVar contains an entry for this variant (Variation ID: 553190). For these reasons, this variant has been classified as Pathogenic.

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