ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.621C>T (p.Ile207=)

gnomAD frequency: 0.00001  dbSNP: rs758236544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000826962 SCV000968566 likely benign not provided 2018-03-23 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 RCV001444848 SCV001647862 likely benign Pyridoxine-dependent epilepsy 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001444848 SCV004049683 likely benign Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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