ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.461C>T (p.Pro154Leu)

gnomAD frequency: 0.00002  dbSNP: rs998546145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593603 SCV000705802 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001867966 SCV002261692 uncertain significance Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 154 of the PEX26 protein (p.Pro154Leu). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 500032). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PEX26 protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000593603 SCV005410177 uncertain significance not provided 2023-08-25 criteria provided, single submitter clinical testing PM2_moderate

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