ClinVar Miner

Submissions for variant NC_000007.14:g.(?_92489273)_(92491522_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633318 SCV000754539 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-01-03 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 21-23 of the PEX1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PEX1-related disease. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001387291 SCV001587865 pathogenic Zellweger spectrum disorders 2017-12-17 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 21-23 of the PEX1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PEX1-related disease. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). For these reasons, this variant has been classified as Pathogenic.

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