ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) (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
Invitae RCV001234064 SCV001406690 pathogenic Peroxisome biogenesis disorder 9B 2019-09-09 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. This variant is present in population databases (rs764924345, ExAC 0.02%). This variant has not been reported in the literature in individuals with PEX7-related conditions. Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447). For these reasons, this variant has been classified as Pathogenic.

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