ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)

gnomAD frequency: 0.00001  dbSNP: rs767447750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666102 SCV000790343 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861749 SCV002236703 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln71*) 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). This variant is present in population databases (rs767447750, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PEX12-related conditions. ClinVar contains an entry for this variant (Variation ID: 551127). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001861749 SCV004201449 likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2023-11-08 criteria provided, single submitter clinical testing

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