ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.996A>C (p.Lys332Asn)

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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 RCV004720699 SCV005329601 uncertain significance Peroxisome biogenesis disorder 11A (Zellweger) 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.996A>C (p.Lys332Asn) in the PEX13 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Lysine at position 332 is changed to a Asparagine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Probably damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Lys332Asn in PEX13 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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