ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)

dbSNP: rs2484661854
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306500 SCV002602527 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 2021-11-02 criteria provided, single submitter clinical testing NM_000466.2(PEX1):c.2280_2281insG(I761Dfs*8) is expected to be pathogenic in the context of peroxisome biogenesis disorder type 1. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PEX1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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