ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu) (rs200279475)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733616 SCV000861704 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001137937 SCV001297936 uncertain significance Peroxisome biogenesis disorder 7A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001202024 SCV001373120 uncertain significance Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 11 of the PEX26 protein (p.Pro11Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs200279475, ExAC 0.03%). This variant has not been reported in the literature in individuals with PEX26-related conditions. ClinVar contains an entry for this variant (Variation ID: 597480). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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