ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)

gnomAD frequency: 0.00001  dbSNP: rs888633730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665795 SCV000789971 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532046 SCV003444012 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2022-08-31 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550907). This variant has not been reported in the literature in individuals affected with PEX12-related conditions. This sequence change creates a premature translational stop signal (p.Gln17*) 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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