ClinVar Miner

Submissions for variant NM_001033044.4(GLUL):c.316C>T (p.Arg106Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003030774 SCV003310518 uncertain significance Congenital brain dysgenesis due to glutamine synthetase deficiency 2022-05-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This premature translational stop signal has been observed in individual(s) with GLUL-related conditions (PMID: 33150193). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg106*) in the GLUL gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GLUL cause disease.

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