ClinVar Miner

Submissions for variant NM_020988.3(GNAO1):c.828C>T (p.Gly276=)

gnomAD frequency: 0.00028  dbSNP: rs199741926
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464048 SCV000560886 likely benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171913 SCV001334814 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing GNAO1: BP4, BP7
GeneDx RCV001171913 SCV001869919 benign not provided 2020-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902704 SCV004727393 likely benign GNAO1-related disorder 2022-10-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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