Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000800175 | SCV000939875 | pathogenic | KBG syndrome | 2018-11-08 | criteria provided, single submitter | clinical testing | Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ANKRD11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn819*) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. |
3billion | RCV000800175 | SCV002012343 | pathogenic | KBG syndrome | 2021-10-02 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_S).It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). The variant has been reported as pathogenic (ClinVar ID: 645982).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |