ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1362A>G (p.Gly454=)

dbSNP: rs1749946158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001470525 SCV001674621 likely benign Pyridoxine-dependent epilepsy 2022-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956033 SCV004770455 likely benign ALDH7A1-related disorder 2022-08-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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