Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000389598 | SCV000330550 | pathogenic | not provided | 2021-01-15 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); 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; This variant is associated with the following publications: (PMID: 32124548, 31191201) |
Hudson |
RCV000455520 | SCV000540910 | likely pathogenic | KBG syndrome | 2017-03-09 | criteria provided, single submitter | research | |
Ambry Genetics | RCV000622829 | SCV000742139 | pathogenic | Inborn genetic diseases | 2017-01-12 | criteria provided, single submitter | clinical testing | |
Laboratoire Génétique Moléculaire, |
RCV000389598 | SCV001760751 | pathogenic | not provided | 2019-01-14 | criteria provided, single submitter | clinical testing | |
Medical Cytogenetics and Molecular Genetics Laboratory, |
RCV000455520 | SCV002097369 | pathogenic | KBG syndrome | 2021-11-01 | criteria provided, single submitter | research | |
Ce |
RCV000389598 | SCV003917860 | pathogenic | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000455520 | SCV004101374 | pathogenic | KBG syndrome | 2023-05-26 | criteria provided, single submitter | clinical testing | The ANKRD11 c.2197C>T (p.Arg733Ter) nonsense variant is predicted to result in the loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in a de novo state in the literature in individuals with KBG syndrome (PMID: 31191201, 32124548, 34971082, 35682590). This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant was identified in a de novo state. Based on the available evidence, the c.2197C>T (p.Arg733Ter) variant is classified as pathogenic for KBG syndrome. |