ClinVar Miner

Submissions for variant NM_003630.3(PEX3):c.412G>A (p.Gly138Arg)

dbSNP: rs1562654527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000778168 SCV000914247 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2019-05-23 criteria provided, single submitter clinical testing parent of an affected child
GeneDx RCV001772038 SCV001992260 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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