ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.61T>G (p.Cys21Gly)

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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 RCV002587628 SCV002948908 uncertain significance ALG3-congenital disorder of glycosylation 2022-10-24 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. This variant has not been reported in the literature in individuals affected with ALG3-related conditions. This variant is present in population databases (rs773806254, gnomAD 0.006%). This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 21 of the ALG3 protein (p.Cys21Gly).

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