ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.497T>A (p.Leu166Ter)

dbSNP: rs1586069639
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820647 SCV000961367 pathogenic Peroxisome biogenesis disorder 5A (Zellweger) 2018-12-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the PEX2 protein. Other variant(s) that disrupt this region (p.Arg184Valfs*8) have been determined to be pathogenic (PMID: 10652207). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with PEX2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the PEX2 gene (p.Leu166*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 140 amino acids of the PEX2 protein.

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