ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.112C>T (p.Gln38Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003632627 SCV004557412 pathogenic Pyridoxine-dependent epilepsy 2023-02-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ALDH7A1-related conditions. This sequence change creates a premature translational stop signal (p.Gln38*) in the ALDH7A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDH7A1 are known to be pathogenic (PMID: 16491085, 20554659).

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