ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.421G>A (p.Ala141Thr)

gnomAD frequency: 0.00001  dbSNP: rs747538698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001971316 SCV002257954 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 141 of the PEX10 protein (p.Ala141Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PEX10-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 threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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