ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.223_224del (p.Leu75fs)

dbSNP: rs1555549876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664813 SCV000788828 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387645 SCV001588317 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2023-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu75Valfs*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). This variant is not present in population databases (gnomAD no frequency). 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: 550148). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001387645 SCV004201445 likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2023-11-30 criteria provided, single submitter clinical testing

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