ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.183del (p.Phe61fs) (rs774131564)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490306 SCV000267444 likely pathogenic Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B 2016-03-18 criteria provided, single submitter reference population
Baylor Genetics RCV001004176 SCV001162993 pathogenic Rhizomelic chondrodysplasia punctata type 1 criteria provided, single submitter clinical testing
Invitae RCV001043666 SCV001207424 pathogenic Peroxisome biogenesis disorder 9B 2020-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe61Leufs*13) in the PEX7 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs774131564, ExAC 0.09%). This variant has not been reported in the literature in individuals with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 225436). Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 20301447). For these reasons, this variant has been classified as Pathogenic.

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