Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193875 | SCV000246509 | pathogenic | Coffin-Siris syndrome 1 | 2015-08-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000578614 | SCV000680673 | pathogenic | not provided | 2021-09-10 | 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23906836, 30349098) |
Ce |
RCV000578614 | SCV001250190 | pathogenic | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | ARID1B: PVS1, PS2, PM2 |
Institute of Medical Genetics and Applied Genomics, |
RCV000578614 | SCV001447742 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000193875 | SCV002054272 | pathogenic | Coffin-Siris syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Victorian Clinical Genetics Services, |
RCV000193875 | SCV002766671 | pathogenic | Coffin-Siris syndrome 1 | 2020-06-11 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. (N) 0201 - Variant is located in exon 6 of 20 and is predicted to cause nonsense-mediated decay (NMD) and loss of protein. (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0701 - Comparable variants have very strong previous evidence for pathogenicity. More than 10 NMD-predicted variants have been reported in this gene (ClinVar). (P) 0801 - Strong previous evidence of pathogenicity in unrelated individuals. This variant has been found in 7 patients with Coffin-Siris syndrome and ARID1B-related disorders (PMID: 25217958, 23906836; ClinVar). (P) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1203 - Variant shown to be de novo in proband (parental status confirmed). (P) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign |