ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)

dbSNP: rs765404768
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670011 SCV000794819 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855532 SCV002154864 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2021-06-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554388). This variant has not been reported in the literature in individuals affected with PEX12-related conditions. This variant is present in population databases (rs765404768, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Tyr74*) in the PEX12 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX12 are known to be pathogenic (PMID: 9090384, 9632816, 21031596).

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