ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)

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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 RCV003539023 SCV004284891 pathogenic Peroxisome biogenesis disorder 11A (Zellweger) 2022-11-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with PEX13-related conditions (PMID: 21031596). This variant is present in population databases (rs146554084, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg226*) 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).
PreventionGenetics, part of Exact Sciences RCV004554253 SCV004712986 pathogenic PEX13-related disorder 2023-12-18 no assertion criteria provided clinical testing The PEX13 c.676C>T variant is predicted to result in premature protein termination (p.Arg226*). This variant has been reported in the homozygous state in individuals with Zellweger syndrome H (Ebberink et al 2011. PubMed ID: 21031596). This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. Nonsense variants in PEX13 are expected to be pathogenic. This variant is interpreted as pathogenic.

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