ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.860_861del (p.Glu287fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386552 SCV001586813 pathogenic Peroxisome biogenesis disorder 9B 2020-02-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PEX7 gene (p.Glu287Valfs*17). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acids of the PEX7 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX7-related conditions. This variant disrupts the C-terminus of the PEX7 protein. Other variant(s) that disrupt this region (p.Leu292*) have been determined to be pathogenic (PMID: 9090381, 9090382, 23572185, 22008564, 10083738, 21990100, 25800479). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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