ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.550del (p.Cys184fs) (rs63545361)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794931 SCV000934368 pathogenic Peroxisome biogenesis disorder 5a (zellweger) 2019-02-01 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PEX2 gene (p.Arg184Valfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 122 amino acids of the PEX2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with peroxisomal biogenesis disorder (PBD) (PMID: 10652207). This variant has been reported to substantially affect PEX2 protein function (PMID: 10652207). This variant disrupts the C-terminus of the PEX2 protein. Other variants that disrupt this region (p.Trp223*, p.Phe278Leufs*3) have been observed in individuals with PEX2-related conditions (PMID: 14630978, 17041890). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic.

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