Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV001265602 | SCV001443770 | pathogenic | Coffin-Siris syndrome 6 | 2020-03-27 | criteria provided, single submitter | clinical testing | This variant affects the canonical splice acceptor site of intron 9 and is therefore predicted to interfere with splicing and result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the gnomAD population database and thus is presumed to be rare. Multiple splice prediction tools suggest this variant is likely to interfere with normal splicing. The ARID2 gene is highly intolerant of loss-of-function variants (pLI of 1) and the majority of disease causing ARID2 variations reported are de novo loss-of-function variants (PMID: 28124119, 26238514). Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1121-1G>A variant is classified as Pathogenic. |