ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer)

dbSNP: rs2072797369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206889 SCV001378223 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2019-09-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PEX12 are known to be pathogenic (PMID: 9090384, 9632816, 21031596). This variant has not been reported in the literature in individuals with PEX12-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe21*) in the PEX12 gene. It is expected to result in an absent or disrupted protein product.

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