ClinVar Miner

Submissions for variant NM_001033044.4(GLUL):c.1A>T (p.Met1Leu)

dbSNP: rs1131691970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, University of Otago RCV003884568 SCV004177220 likely pathogenic Glutamine synthetase stabilization disorder 2023-12-01 no assertion criteria provided clinical testing

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