ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro)

gnomAD frequency: 0.00012  dbSNP: rs267608235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667540 SCV000792009 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2017-06-05 criteria provided, single submitter clinical testing
Invitae RCV001855482 SCV002223232 uncertain significance Peroxisome biogenesis disorder 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 742 of the PEX6 protein (p.Leu742Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs267608235, ExAC 0.04%). This missense change has been observed in individual(s) with clinical features of Zellweger spectrum disorder (PMID: 19877282). ClinVar contains an entry for this variant (Variation ID: 552309). 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. 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.
Center for Personalized Medicine, Children's Hospital Los Angeles RCV003156107 SCV003845339 uncertain significance See cases 2022-12-21 criteria provided, single submitter clinical testing

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