ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.616C>A (p.Gln206Lys)

gnomAD frequency: 0.00001  dbSNP: rs786205502
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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 RCV001968309 SCV002239359 uncertain significance Peroxisome biogenesis disorder 3A (Zellweger) 2021-01-15 criteria provided, single submitter clinical testing 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PEX12-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with lysine at codon 206 of the PEX12 protein (p.Gln206Lys). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and lysine.

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