ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.349A>G (p.Ile117Val)

gnomAD frequency: 0.00002  dbSNP: rs767207001
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000379331 SCV000335435 uncertain significance not provided 2015-09-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260746 SCV000402004 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000667830 SCV000792335 uncertain significance Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521897 SCV003459559 uncertain significance Peroxisome biogenesis disorder 3A (Zellweger) 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 117 of the PEX12 protein (p.Ile117Val). This variant is present in population databases (rs767207001, gnomAD 0.04%). 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: 283389). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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