Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000850361 | SCV000992542 | likely pathogenic | MHC class II deficiency | 2019-02-25 | criteria provided, single submitter | research | ACMG codes: PVS1, PM2 |
Invitae | RCV000850361 | SCV002165499 | pathogenic | MHC class II deficiency | 2021-11-16 | 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: 689614). This variant has not been reported in the literature in individuals affected with RFXANK-related conditions. This variant is present in population databases (rs753338285, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ile152Profs*28) in the RFXANK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RFXANK are known to be pathogenic (PMID: 10803838, 16166641, 21908431). |
Baylor Genetics | RCV000850361 | SCV003835759 | likely pathogenic | MHC class II deficiency | 2022-09-16 | criteria provided, single submitter | clinical testing |