ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.901C>G (p.Arg301Gly)

dbSNP: rs767306549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498904 SCV000590670 uncertain significance not provided 2017-06-21 criteria provided, single submitter clinical testing The R301G variant in the PEX5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R301G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R301G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R301G as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001369220 SCV001565650 uncertain significance Peroxisome biogenesis disorder 2B 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 301 of the PEX5 protein (p.Arg301Gly). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 432897). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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