Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493544 | SCV000583249 | likely pathogenic | not provided | 2016-08-09 | criteria provided, single submitter | clinical testing | The c.1 A>T variant in the GLUL gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1 A>T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. As this variant changes the translation initiator Methionine codon, the resultant protein is 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 Methionine. The c.1 A>T variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |
Women's and Children's Health, |
RCV003884568 | SCV004177220 | likely pathogenic | Glutamine synthetase stabilization disorder | 2023-12-01 | no assertion criteria provided | clinical testing |