ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.364del (p.Thr122fs)

dbSNP: rs2115170460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388002 SCV001588784 pathogenic Peroxisome biogenesis disorder 9B 2020-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr122Profs*59) in the PEX7 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447). This variant has not been reported in the literature in individuals with PEX7-related conditions. This variant is not present in population databases (ExAC no frequency).

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