ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.130G>T (p.Glu44Ter)

dbSNP: rs2112820022
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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 RCV001389875 SCV001591397 pathogenic Pyridoxine-dependent epilepsy 2022-03-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076094). This variant has not been reported in the literature in individuals affected with ALDH7A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu44*) 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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