Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000660535 | SCV000782638 | pathogenic | KBG syndrome | 2017-03-16 | criteria provided, single submitter | clinical testing | |
Genome Medicine, |
RCV000660535 | SCV002562765 | pathogenic | KBG syndrome | criteria provided, single submitter | clinical testing | KBG syndrome | |
Illumina Laboratory Services, |
RCV000660535 | SCV004014648 | pathogenic | KBG syndrome | 2022-12-21 | criteria provided, single submitter | clinical testing | The ANKRD11 c.2404_2407del (p.Leu802LysfsTer60) variant results in the deletion of four nucleotides at position c. 2404-2407, causing a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. This variant has been reported in one affected individual in a de novo state, however clinical details were not specified (PMID: 33144682). This variant is not found 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.2404_2407del (p.Leu802LysfsTer60) variant is classified pathogenic for KBG syndrome. |