Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002466652 | SCV002762419 | pathogenic | not provided | 2022-12-09 | criteria provided, single submitter | clinical testing | Identified in a patient with features of Coffin-Siris syndrome in published literature, although familial segregation and specific clinical information were not provided (Santen et al., 2013); Frameshift variant predicted to result in protein truncation, as the last 16 amino acids are replaced with 6 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31785789, 23929686, 31526516) |
Department of Genetics, |
RCV001264729 | SCV001442960 | likely pathogenic | Coffin-Siris syndrome 1 | 2020-04-03 | no assertion criteria provided | clinical testing |