ClinVar Miner

Submissions for variant NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) (rs1057518678)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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 Early infantile 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, Peking University First Hospital RCV001580371 SCV001486217 pathogenic Early infantile epileptic encephalopathy 17; Neurodevelopmental disorder with involuntary movements 2021-02-03 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.