ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)

dbSNP: rs1238451790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668380 SCV000792971 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868221 SCV002138952 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2022-11-09 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: 553017). This variant has not been reported in the literature in individuals affected with PEX12-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln26Argfs*2) 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).
Baylor Genetics RCV001868221 SCV004201456 likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2022-06-23 criteria provided, single submitter clinical testing

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