ClinVar Miner

Submissions for variant NM_002857.4(PEX19):c.606del (p.Trp202fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018310 SCV004847479 likely pathogenic Zellweger spectrum disorders 2024-03-27 criteria provided, single submitter clinical testing The p.Trp202CysfsX60 variant in PEX19 has not been previously reported in individuals with Zellweger spectrum disorder but has been identified in 0.005% (2/41460) of African/African American chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.4.0.0), consistent with a recessive carrier frequency. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 202 and leads to a premature termination codon 60 amino acids downstream. This alteration is then 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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