ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)

gnomAD frequency: 0.00001  dbSNP: rs764924345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004180 SCV001162998 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001234064 SCV001406690 pathogenic Peroxisome biogenesis disorder 9B 2023-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln198*) 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 present in population databases (rs764924345, gnomAD 0.01%). 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: 813366). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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