ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.835G>A (p.Glu279Lys)

gnomAD frequency: 0.00001  dbSNP: rs62641225
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001984142 SCV002280926 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 299 of the PEX10 protein (p.Glu299Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs62641225, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with PEX10-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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