ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1144C>T (p.Leu382Phe)

gnomAD frequency: 0.00001  dbSNP: rs894016061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230342 SCV001402817 uncertain significance Pyridoxine-dependent epilepsy 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 382 of the ALDH7A1 protein (p.Leu382Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ALDH7A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV001532517 SCV001748119 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001230342 SCV004050713 uncertain significance Pyridoxine-dependent epilepsy 2023-04-11 criteria provided, single submitter clinical testing

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