ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.45_52dup (p.His18fs) (rs63535662)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032589 SCV000959105 pathogenic Peroxisome biogenesis disorder 9B 2018-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His18Argfs*35) in the PEX7 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individuals affected with rhizomelic chondrodysplasia punctata (PMID: 11781871). ClinVar contains an entry for this variant (Variation ID: 7784). Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 20301447). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000032589 SCV000028433 pathogenic Peroxisome biogenesis disorder 9B 2002-03-01 no assertion criteria provided literature only
GeneReviews RCV000008226 SCV000055658 pathologic Rhizomelic chondrodysplasia punctata type 1 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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