ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) (rs62636519)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411594 SCV000485994 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2016-03-14 criteria provided, single submitter clinical testing
Invitae RCV000008232 SCV000937306 pathogenic Peroxisome biogenesis disorder 9B 2019-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly7Valfs*51) 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 an individual affected with Refsum disease (PMID: 12522768). ClinVar contains an entry for this variant (Variation ID: 370629). Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 20301447). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000411594 SCV001162990 pathogenic Rhizomelic chondrodysplasia punctata type 1 criteria provided, single submitter clinical testing
OMIM RCV000008232 SCV000028439 pathogenic Peroxisome biogenesis disorder 9B 2003-02-01 no assertion criteria provided literature only
GeneReviews RCV000411594 SCV000055655 pathologic Rhizomelic chondrodysplasia punctata type 1 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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