ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.273G>T (p.Met91Ile)

gnomAD frequency: 0.00002  dbSNP: rs761240813
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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 RCV001990025 SCV002232503 uncertain significance Peroxisome biogenesis disorder 2B 2022-07-18 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1450212). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. This variant is present in population databases (rs761240813, gnomAD 0.01%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 91 of the PEX5 protein (p.Met91Ile).

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