ClinVar Miner

Submissions for variant NM_003630.3(PEX3):c.190A>C (p.Thr64Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV002510720 SCV002820261 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) criteria provided, single submitter clinical testing The missense variant p.T64P in PEX3 (NM_003630.2) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.T64P variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.T64P missense variant is predicted to be damaging by both SIFT and PolyPhen2. The threonine residue at codon 64 of PEX3 is conserved in all mammalian species. The nucleotide c.190 in PEX3 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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