ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.429del (p.Val144fs) (rs61753248)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670475 SCV000795330 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2017-11-03 criteria provided, single submitter clinical testing
Invitae RCV000809601 SCV000949760 pathogenic Peroxisome biogenesis disorder 9B 2018-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val144Leufs*37) in the PEX7 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with rhizomelic chondrodysplasia punctata (PMID: 12325024). ClinVar contains an entry for this variant (Variation ID: 554785). Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 20301447). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001275004 SCV001459667 pathogenic Rhizomelic chondrodysplasia punctata 2020-09-16 no assertion criteria provided clinical testing

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