ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.508del (p.Cys170fs)

dbSNP: rs1057516827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411123 SCV000486291 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2016-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523861 SCV002954828 pathogenic Peroxisome biogenesis disorder 9B 2023-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys170Valfs*11) in the PEX7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 370867). For these reasons, this variant has been classified as Pathogenic.

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