Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000671612 | SCV000796600 | uncertain significance | Hereditary factor XI deficiency disease | 2017-12-28 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003235026 | SCV003934288 | uncertain significance | not specified | 2023-05-16 | criteria provided, single submitter | clinical testing | Variant summary: F11 c.683G>A (p.Arg228Gln) results in a conservative amino acid change located in the apple domain (IPR000177) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 251438 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.683G>A has been reported in the literature as a heterozygous genotype in one individual and as a compound heterozygous genotype together with a full gene deletion in another individual, both affected with Hereditary factor XI deficiency disease (Gueguen_2012, De Mazancourt_2023). These data do not allow any strong conclusion about variant significance. 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: 36195107, 22159456). One clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Uni |
RCV000059028 | SCV000090549 | not provided | not provided | no assertion provided | not provided |