Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440969 | SCV000536219 | pathogenic | not provided | 2017-01-23 | criteria provided, single submitter | clinical testing | The R564X variant in the CHD8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R564X variant was not observed in approximately 6,000 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 R564X as a pathogenic variant. |
Ce |
RCV000440969 | SCV000608692 | likely pathogenic | not provided | 2017-04-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003401437 | SCV004103777 | pathogenic | CHD8-related condition | 2023-10-06 | criteria provided, single submitter | clinical testing | The CHD8 c.1690C>T variant is predicted to result in premature protein termination (p.Arg564*). This variant has been reported in patients with CHD8-related intellectual developmental disorder with autism and macrocephaly (Tatton-Brown et al. 2017. PubMed ID: 28475857; Ostrowski et al. 2019. PubMed ID: 31721432; Dingemans et al. 2022. PubMed ID: 36182950). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CHD8 are expected to be pathogenic. This variant is interpreted as pathogenic. |