ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.626A>G (p.Lys209Arg)

dbSNP: rs748132358
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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 RCV002012083 SCV002220404 uncertain significance Peroxisome biogenesis disorder 2B 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 209 of the PEX5 protein (p.Lys209Arg). This variant is present in population databases (rs748132358, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1448193). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX5 protein function. Experimental studies have shown that this missense change affects PEX5 function (PMID: 26344566). 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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