ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1430C>A (p.Ala477Glu)

gnomAD frequency: 0.00001  dbSNP: rs779806201
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963546 SCV002251314 uncertain significance Peroxisome biogenesis disorder 2B 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 477 of the PEX5 protein (p.Ala477Glu). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is present in population databases (rs779806201, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with PEX5-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 glutamic acid 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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