Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190118 | SCV000240199 | pathogenic | not provided | 2016-12-12 | criteria provided, single submitter | clinical testing | The c.2536delG pathogenic variant in the ARID2 gene has now been published as a disease-causing variant associated with ARID2-related disorders (Shang et al., 2015). The c.2536delG variant causes a frameshift starting with codon Valine 846, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Val846LeufsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2536delG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2536delG as a pathogenic variant |
OMIM | RCV000523398 | SCV000616351 | pathogenic | Coffin-Siris syndrome 6 | 2017-12-14 | no assertion criteria provided | literature only |