ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.569A>G (p.Glu190Gly)

dbSNP: rs201867828
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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 RCV001229064 SCV001401496 uncertain significance Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2022-01-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 190 of the PEX26 protein (p.Glu190Gly). This variant is present in population databases (rs201867828, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX26-related conditions. ClinVar contains an entry for this variant (Variation ID: 956289). 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: "Possibly Damaging"; 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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