ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1124A>G (p.Lys375Arg)

dbSNP: rs1298566677
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803812 SCV000943698 uncertain significance Pyridoxine-dependent epilepsy 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 375 of the ALDH7A1 protein (p.Lys375Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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