ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.367G>T (p.Glu123Ter)

dbSNP: rs2104803395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920585 SCV002182851 pathogenic Peroxisome biogenesis disorder 11A (Zellweger) 2023-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu123*) in the PEX13 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX13 are known to be pathogenic (PMID: 10332040, 21031596). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX13-related conditions. ClinVar contains an entry for this variant (Variation ID: 1411346). For these reasons, this variant has been classified as Pathogenic.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285029 SCV002574861 pathogenic Peroxisome biogenesis disorder 11B 2022-09-22 criteria provided, single submitter clinical testing

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