Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000657944 | SCV000779714 | pathogenic | not provided | 2018-05-18 | criteria provided, single submitter | clinical testing | The Y231C variant in the GNAO1 gene has been reported as a de novo variant in multiple unrelated patients with early infantile epileptic encephalopathy (Talvik et al., 2015; Posey et al., 2017). Functional studies suggest that Y231C results in partial loss of function (Feng et al., 2017). The Y231C variant is not observed in large population cohorts (Lek et al., 2016). The Y231C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. |
| Baylor Genetics | RCV000414910 | SCV000328761 | likely pathogenic | Developmental and epileptic encephalopathy, 17 | 2015-02-06 | no assertion criteria provided | clinical testing | Our laboratory reported dual molecular diagnoses in GNAO1 (NM_138736.2, c.692A>G) and ACADM (NM_000016.4, c.287-2A>G and c.985A>G in trans) in one individual with reported features of medium chain acyl-CoA dehydrogenase deficiency, history of prematurity, developmental regression and seizures, non-ocular blindness. This variant was also found de novo in a second individual, a 1-year-old male with global delays, failure to thrive, hypotonia, seizures, dysmorphisms, microcephaly. |
| Pediatric Department, |
RCV001580371 | SCV001486217 | pathogenic | Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements | 2021-02-03 | no assertion criteria provided | clinical testing |