ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.79C>G (p.Arg27Gly)

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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 RCV002606217 SCV003498552 uncertain significance ALG3-congenital disorder of glycosylation 2022-06-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 27 of the ALG3 protein (p.Arg27Gly). 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. This variant has not been reported in the literature in individuals affected with ALG3-related conditions. This variant is present in population databases (rs751710887, gnomAD 0.002%).

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