ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1347T>A (p.Asn449Lys)

dbSNP: rs1342037208
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219881 SCV001391843 uncertain significance Pyridoxine-dependent epilepsy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 449 of the ALDH7A1 protein (p.Asn449Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with folinic acid-responsive seizures (PMID: 19142996). This variant is also known as p.Asn421Lys. 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 disruptive. 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.

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