ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)

gnomAD frequency: 0.00003  dbSNP: rs61752105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666766 SCV000791116 pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390433 SCV001592169 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg202*) 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 (rs61752105, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Zellweger syndrome (PMID: 14571262, 21031596). ClinVar contains an entry for this variant (Variation ID: 551647). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001390433 SCV004201438 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2024-03-04 criteria provided, single submitter clinical testing

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