ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)

dbSNP: rs387906574
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092771 SCV001249424 pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814003 SCV001755173 likely pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing
Invitae RCV000019615 SCV003439193 pathogenic Pyridoxine-dependent epilepsy 2023-04-19 criteria provided, single submitter clinical testing This variant is also known as 1512delG. This frameshift has been observed in individuals with pyridoxine-dependent epilepsy (PMID: 16491085, 27186704). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the ALDH7A1 gene (p.Ala533Profs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the ALDH7A1 protein and extend the protein by 10 additional amino acid residues. ClinVar contains an entry for this variant (Variation ID: 17999). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this frameshift affects ALDH7A1 function (PMID: 16491085). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant.
Genome-Nilou Lab RCV000019615 SCV004049940 likely pathogenic Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000019615 SCV000039913 pathogenic Pyridoxine-dependent epilepsy 2006-03-01 no assertion criteria provided literature only

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