ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.34_37del (p.Asn12fs)

dbSNP: rs1174648906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210965 SCV001382482 pathogenic Peroxisome biogenesis disorder 5A (Zellweger) 2022-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PEX2 protein in which other variant(s) (p.Arg119*) have been determined to be pathogenic (PMID: 1546315, 7681622, 9452066, 9585609, 10528859, 15542397, 21465523, 23430938). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 941223). This variant has not been reported in the literature in individuals affected with PEX2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asn12Glufs*3) in the PEX2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 294 amino acid(s) of the PEX2 protein.
Baylor Genetics RCV001210965 SCV004201466 likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger) 2023-10-11 criteria provided, single submitter clinical testing

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