ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1691T>C (p.Ile564Thr)

dbSNP: rs1945312349
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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 RCV001997889 SCV002249198 uncertain significance Peroxisome biogenesis disorder 2B 2021-08-12 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 disruptive. This sequence change replaces isoleucine with threonine at codon 564 of the PEX5 protein (p.Ile564Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PEX5-related conditions.

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