ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)

gnomAD frequency: 0.00001  dbSNP: rs1056238409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388910 SCV001590063 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2022-06-28 criteria provided, single submitter clinical testing 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: 1075350). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln111*) 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 (no rsID available, gnomAD 0.01%).
Baylor Genetics RCV001388910 SCV004201457 likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2022-03-19 criteria provided, single submitter clinical testing

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