Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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." |
Invitae | RCV001384497 | SCV001584007 | pathogenic | Zellweger spectrum disorders | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the PEX1 mRNA. The next in-frame methionine is located at codon 209. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with Zellweger spectrum disorder (PMID: 21031596). ClinVar contains an entry for this variant (Variation ID: 371744). This variant disrupts a region of the PEX1 protein in which other variant(s) (p.Val92Leu) have been observed in individuals with PEX1-related conditions (PMID: 16141001). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified 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 |