ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.138G>A (p.Gly46=)

dbSNP: rs770975428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002133470 SCV002450701 likely benign Pyridoxine-dependent epilepsy 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002391313 SCV002698369 likely benign Inborn genetic diseases 2018-06-22 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.
Genome-Nilou Lab RCV002133470 SCV004050376 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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