ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1287del (p.Trp430fs) (rs1258472160)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514917 SCV000610968 likely pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing
Invitae RCV001231241 SCV001403754 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp430Glyfs*20) in the PEX6 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 not been reported in the literature in individuals with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 446026). Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 8670792, 19877282, 21031596). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001276617 SCV001463069 likely pathogenic Zellweger syndrome 2020-09-16 no assertion criteria provided clinical testing

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