ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.573C>T (p.Ile191=)

gnomAD frequency: 0.00001  dbSNP: rs1554100447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616100 SCV000716314 likely benign not specified 2017-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003517241 SCV004271862 likely benign Pyridoxine-dependent epilepsy 2023-07-10 criteria provided, single submitter clinical testing

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