ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1A>T (p.Met1Leu) (rs1057517501)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598681 SCV000710574 pathogenic not provided 2019-01-17 criteria provided, single submitter clinical testing The c.1 A>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1 A>T variant is not observed in large population cohorts (Lek et al., 2016). The c.1 A>T variant alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. In summary, we interpret this variant as pathogenic."
Counsyl RCV000411873 SCV000487617 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-05-24 no assertion criteria provided clinical testing
Counsyl RCV000409502 SCV000487618 likely pathogenic Peroxisome biogenesis disorder 1B 2016-05-24 no assertion criteria provided clinical testing

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