ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.177G>A (p.Trp59Ter)

dbSNP: rs1064794242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484489 SCV000568348 pathogenic not provided 2017-04-05 criteria provided, single submitter clinical testing The W59X nonsense variant in the ALDH7A1 gene has been reported previously in an individual with pyridoxine-dependent epilepsy who had a second ALDH7A1 variant identified (Kanno et al., 2007). Due to use of alternative nomenclature, this variant has been reported as W31X (Kanno et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W59X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the W59X variant is considered to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003517199 SCV004292835 pathogenic Pyridoxine-dependent epilepsy 2023-03-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp59*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with pyridoxine-dependent epilepsy (PMID: 17433748). This variant is also known as c.93G>A, W31X. ClinVar contains an entry for this variant (Variation ID: 420019). For these reasons, this variant has been classified as Pathogenic.

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