ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter)

gnomAD frequency: 0.00001  dbSNP: rs369851185
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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 RCV000707004 SCV000836081 pathogenic Peroxisome biogenesis disorder 11A (Zellweger) 2017-11-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PEX13 are known to be pathogenic (PMID: 10332040, 21031596). This variant has not been reported in the literature in individuals with PEX13-related disease. This variant is present in population databases (rs369851185, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Tyr155*) in the PEX13 gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV001784347 SCV002021667 likely pathogenic not provided 2021-04-14 criteria provided, single submitter clinical testing

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