Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV001281447 | SCV001468755 | likely pathogenic | Cerebral hemorrhage | 2019-07-17 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479308 | SCV004223343 | pathogenic | Hereditary factor XI deficiency disease | 2023-11-06 | criteria provided, single submitter | clinical testing | Variant summary: F11 c.1204C>T (p.Gln402X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251476 control chromosomes (gnomAD). c.1204C>T (also known as Q384*) has been reported in the literature in individuals affected with Hereditary factor XI deficiency disease (examples: Shao_2016 and Yuan_2021). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 27067486, 34776502). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Invitae | RCV003727976 | SCV004540399 | pathogenic | not provided | 2023-09-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 992721). This variant is also known as Q384*. This premature translational stop signal has been observed in individual(s) with autosomal recessive factor XI deficiency (PMID: 27067486). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln402*) 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). |