ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2705T>C (p.Leu902Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577238 SCV005061165 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger) criteria provided, single submitter clinical testing The missense variant c.2705T>C (p.Leu902Pro) in the PEX6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Leucine at position 902 is changed to a Proline changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Leu902Pro in PEX6 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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