Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Statistics and Bioinformatics, |
RCV000856736 | SCV000999283 | pathogenic | KBG syndrome | criteria provided, single submitter | clinical testing | ||
Daryl Scott Lab, |
RCV000856736 | SCV001448622 | pathogenic | KBG syndrome | 2020-11-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001569459 | SCV001793541 | pathogenic | not provided | 2021-12-17 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30202406) |
Ce |
RCV001569459 | SCV001961635 | pathogenic | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV001569459 | SCV002010609 | pathogenic | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Medical Cytogenetics and Molecular Genetics Laboratory, |
RCV000856736 | SCV002097354 | pathogenic | KBG syndrome | 2021-11-01 | criteria provided, single submitter | research | |
Invitae | RCV000856736 | SCV002229446 | pathogenic | KBG syndrome | 2023-03-08 | 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: 694682). This premature translational stop signal has been observed in individuals with KBG syndrome (PMID: 30202406, 35682590). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg458*) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). |