ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter)

dbSNP: rs121912710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255947 SCV000322099 pathogenic not provided 2016-03-28 criteria provided, single submitter clinical testing The Y408X nonsense pathogenic variant has been previously reported, using alternative nomenclature, in association with pyridoxine-dependent seizures (Mills et al., 2006). Functional studies indicate Y408X significantly decreases enzyme activity (Mills et al., 2006). The Y408X pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, Y408X is considered to be a pathogenic variant.
OMIM RCV000019616 SCV000039914 pathogenic Pyridoxine-dependent epilepsy 2006-03-01 no assertion criteria provided literature only

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