ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.335A>G (p.Gln112Arg)

gnomAD frequency: 0.00002  dbSNP: rs376279395
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038495 SCV001201965 uncertain significance Peroxisome biogenesis disorder 3A (Zellweger) 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 112 of the PEX12 protein (p.Gln112Arg). This variant is present in population databases (rs376279395, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX12-related conditions. ClinVar contains an entry for this variant (Variation ID: 837213). 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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