ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.393C>G (p.Val131=)

gnomAD frequency: 0.00028  dbSNP: rs147496974
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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 RCV003631171 SCV001114545 likely benign Hyperinsulinism-hyperammonemia syndrome 2023-11-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000967173 SCV001144066 benign not provided 2019-03-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819074 SCV002066689 uncertain significance not specified 2019-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629393 SCV005123063 likely benign Inborn genetic diseases 2024-05-30 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.

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