ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1512T>C (p.Gly504=)

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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 RCV002392252 SCV002703656 likely benign Inborn genetic diseases 2018-01-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003095272 SCV003289571 likely benign Pyridoxine-dependent epilepsy 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003095272 SCV004050039 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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