ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.820_828del (p.Thr274_Cys276del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003858458 SCV004655768 pathogenic Peroxisome biogenesis disorder, complementation group 7 2023-04-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs757974161, gnomAD 0.0009%). This variant, c.880_888del, results in the deletion of 3 amino acid(s) of the PEX10 protein (p.Thr294_Cys296del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PEX10 protein in which other variant(s) (p.Cys296Phe) have been determined to be pathogenic (PMID: 27230853). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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