ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.20C>T (p.Thr7Ile)

dbSNP: rs1273090730
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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 RCV001879663 SCV002140751 uncertain significance Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2022-07-25 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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"). ClinVar contains an entry for this variant (Variation ID: 1375426). This variant has not been reported in the literature in individuals affected with PEX26-related conditions. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 7 of the PEX26 protein (p.Thr7Ile).

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