ClinVar Miner

Submissions for variant NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131168 SCV003811332 likely pathogenic Peroxisome biogenesis disorder 12A (Zellweger) 2022-11-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017971 SCV004847406 likely pathogenic Zellweger spectrum disorders 2023-12-28 criteria provided, single submitter clinical testing The p.Leu94X variant in PEX19 has not been previously reported in individuals with Zellweger spectrum disorder disorder but has been reported in ClinVar (Variation ID 2432567). It was absent from large population studies (gnomAD, v.3.1.2). This nonsense variant leads to a premature termination codon at position 94, which is predicted to lead to a truncated or absent protein. Biallelic loss of function of the PEX19 gene is an established disease mechanism in autosomal recessive Zellweger spectrum disorder. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Zellweger spectrum disorder. ACMG/AMP Criteria applied: PVS1, PM2_Supporting.

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