Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501931 | SCV000593413 | pathogenic | Coffin-Siris syndrome 1 | 2016-04-28 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Genetics |
RCV000782033 | SCV000920500 | likely pathogenic | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000782033 | SCV001168564 | pathogenic | not provided | 2020-07-15 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 452 amino acids are replaced with 51 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25363768, 22495309, 23929686, 28191890, 30349098, 31332282, 31981491) |
Clinical Genetics and Genomics, |
RCV000782033 | SCV001449980 | pathogenic | not provided | 2020-02-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000501931 | SCV002054288 | likely pathogenic | Coffin-Siris syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
3billion | RCV000501931 | SCV002521861 | pathogenic | Coffin-Siris syndrome 1 | 2022-05-22 | criteria provided, single submitter | clinical testing | This variant has been reported as pathogenic more than twice (ClinVar ID: VCV000434390, PMID:23929686), along with assertion criteria based on the ACMG guidelines. It is absent from the gnomAD v2.1.1 dataset. The deletion creates a frameshift variant within 50 bp downstream of the penultimate exon or last exon. While it is expected to escape nonsense-mediated decay, the truncated region is considered critical. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |