Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV003444085 | SCV004171159 | pathogenic | Coffin-Siris syndrome 1 | criteria provided, single submitter | not provided | ||
Gene |
RCV004775402 | SCV005386326 | pathogenic | not provided | 2024-02-27 | 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 at significant frequency in large population cohorts (gnomAD) |
Neuberg Centre For Genomic Medicine, |
RCV003444085 | SCV005849338 | likely pathogenic | Coffin-Siris syndrome 1 | criteria provided, single submitter | clinical testing | The stop gained variant c.3061C>T (p.Gln1021Ter) in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in gnomAD Exomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease causing (Tsurusaki et al., 2012). For these reasons, this variant has been classified as Likely Pathogenic. |