ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)

dbSNP: rs1169592069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641058 SCV000762676 uncertain significance Hyperinsulinism-hyperammonemia syndrome 2018-01-13 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GLUD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with leucine at codon 481 of the GLUD1 protein (p.His481Leu). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and leucine.

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