ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.708_709dup (p.Tyr237fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002834048 SCV003218194 pathogenic Peroxisome biogenesis disorder, complementation group 7 2022-06-25 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the PEX10 gene (p.Tyr257Cysfs*108). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acid(s) of the PEX10 protein and extend the protein by 17 additional amino acid residues. 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.Arg331Gln) have been determined to be pathogenic (PMID: 20695019, 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. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is not present in population databases (gnomAD no frequency).

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