ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1390C>T (p.Gln464Ter)

dbSNP: rs1057517035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410709 SCV000486637 likely pathogenic Hereditary factor XI deficiency disease 2016-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003736754 SCV004549982 pathogenic not provided 2023-04-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371138). This variant has not been reported in the literature in individuals affected with F11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln464*) 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).

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