ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.863C>T (p.Ala288Val)

gnomAD frequency: 0.00001  dbSNP: rs772081381
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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 RCV002024747 SCV002308024 uncertain significance ALG3-congenital disorder of glycosylation 2021-09-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALG3-related conditions. 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 is present in population databases (rs772081381, ExAC 0.03%). This sequence change replaces alanine with valine at codon 288 of the ALG3 protein (p.Ala288Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.

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