ClinVar Miner

Submissions for variant NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155779 SCV003844791 likely pathogenic Peroxisome biogenesis disorder 2023-02-15 criteria provided, single submitter clinical testing Variant summary: PEX3 c.685G>T (p.Gly229X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by ClinVar submitters. The variant was absent in 251036 control chromosomes. To our knowledge, no occurrence of c.685G>T in individuals affected with Zellweger Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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