ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1519G>C (p.Val507Leu)

dbSNP: rs1355702643
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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 RCV001930257 SCV002178261 uncertain significance Peroxisome biogenesis disorder 2022-02-02 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 507 of the PEX6 protein (p.Val507Leu). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. 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.

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