ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1183G>A (p.Gly395Arg)

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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 RCV003340723 SCV004047394 uncertain significance Peroxisome biogenesis disorder 4B criteria provided, single submitter clinical testing The missense variant c.1183G>A (p.Gly395Arg) in PEX6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly395Arg variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.0003977% is reported in gnomAD. The amino acid Gly at position 395 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Gly395Arg in PEX6 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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