ClinVar Miner

Submissions for variant NM_020988.3(GNAO1):c.414A>G (p.Gln138=)

gnomAD frequency: 0.00053  dbSNP: rs141057479
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085748 SCV000560881 benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711824 SCV000842229 benign not provided 2018-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311792 SCV000846904 likely benign Inborn genetic diseases 2016-06-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000711824 SCV001860101 benign not provided 2018-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711824 SCV004010489 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing GNAO1: BP4, BP7

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