ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.83A>G (p.Lys28Arg)

gnomAD frequency: 0.00002  dbSNP: rs759345862
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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 RCV001049331 SCV001213377 uncertain significance Peroxisome biogenesis disorder 2B 2022-02-24 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 28 of the PEX5 protein (p.Lys28Arg). This variant is present in population databases (rs759345862, gnomAD 0.07%). 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: 846108). 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 tolerated. Experimental studies have shown that this missense change does not substantially affect PEX5 function (PMID: 26344566). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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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