ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs)

dbSNP: rs753671880
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070994 SCV001236274 pathogenic Pyridoxine-dependent epilepsy 2022-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr434Cysfs*3) 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 present in population databases (rs753671880, gnomAD 0.006%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 863921). This variant is also known as c.1217_1218 delAT. This premature translational stop signal has been observed in individual(s) with pyridoxine-dependent epilepsy (PMID: 20814824, 23350806).
Institute of Human Genetics, University of Leipzig Medical Center RCV001070994 SCV001440164 likely pathogenic Pyridoxine-dependent epilepsy 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV002290585 SCV002578287 pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing Observed in other patients with pyridoxine-dependent epilepsy in published literature (Coughlin CR et al., 2019); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30043187, 20814824)
Genome-Nilou Lab RCV001070994 SCV004050217 pathogenic Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust RCV001070994 SCV004814243 pathogenic Pyridoxine-dependent epilepsy 2021-01-18 criteria provided, single submitter clinical testing Criteria Codes: PVS1 PM2 PM3

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