ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) (rs1057517467)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409527 SCV000487475 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2015-12-28 criteria provided, single submitter clinical testing
Counsyl RCV000411053 SCV000487476 likely pathogenic Peroxisome biogenesis disorder 1B 2015-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000598875 SCV000710062 pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing The Q1192X nonsense variant in the PEX1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1192X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q1192X as a pathogenic variant.

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