ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.614T>C (p.Leu205Pro)

dbSNP: rs1379179938
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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 RCV001874453 SCV002130961 uncertain significance Peroxisome biogenesis disorder 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 205 of the PEX6 protein (p.Leu205Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. 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"). 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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