ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.771del (p.Leu258fs)

dbSNP: rs1555549754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669146 SCV000793863 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003653255 SCV004376681 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2023-04-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 553650). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant disrupts a region of the PEX12 protein in which other variant(s) (p.Gln349del) have been determined to be pathogenic (PMID: 15542397, 21031596; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX12-related conditions. This sequence change creates a premature translational stop signal (p.Leu258Cysfs*19) in the PEX12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 102 amino acid(s) of the PEX12 protein. This variant is not present in population databases (gnomAD no frequency).

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