ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.659G>A (p.Arg220Gln)

gnomAD frequency: 0.00008  dbSNP: rs148417349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732152 SCV000860062 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001307351 SCV001496761 uncertain significance Peroxisome biogenesis disorder 2B 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 220 of the PEX5 protein (p.Arg220Gln). This variant is present in population databases (rs148417349, gnomAD 0.03%). 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: 596349). 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. 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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