ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter)

gnomAD frequency: 0.00001  dbSNP: rs777735499
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037839 SCV002229217 pathogenic Peroxisome biogenesis disorder 2B 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg420*) in the PEX5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX5 are known to be pathogenic (PMID: 18712838, 21031596). This variant is present in population databases (rs777735499, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Zellweger syndrome (PMID: 18712838). ClinVar contains an entry for this variant (Variation ID: 1453131). For these reasons, this variant has been classified as Pathogenic.

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