ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.1198-11CT[2]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001305249 SCV001494578 uncertain significance Hyperinsulinism-hyperammonemia syndrome 2020-03-25 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the GLUD1 gene. It does not directly change the encoded amino acid sequence of the GLUD1 protein. This variant is present in population databases (rs753448342, ExAC 0.003%). This variant has not been reported in the literature in individuals with GLUD1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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.

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