ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1558C>T (p.Arg520Cys)

gnomAD frequency: 0.00001  dbSNP: rs530370123
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037221 SCV001200623 uncertain significance Peroxisome biogenesis disorder 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 520 of the PEX6 protein (p.Arg520Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs530370123, ExAC 0.007%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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