ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.1350C>T (p.Ser450=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002387938 SCV002690036 likely benign Inborn genetic diseases 2022-09-13 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700747 SCV005203269 likely benign not specified 2024-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005097461 SCV005833010 likely benign Hyperinsulinism-hyperammonemia syndrome 2024-09-03 criteria provided, single submitter clinical testing

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