ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)

gnomAD frequency: 0.00004  dbSNP: rs1156439417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790949 SCV000930203 uncertain significance ALG2-congenital disorder of glycosylation 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790950 SCV000930204 uncertain significance Congenital myasthenic syndrome 14 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV002535820 SCV003025048 uncertain significance ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2022-03-26 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.01%). 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. ClinVar contains an entry for this variant (Variation ID: 638332). This variant has not been reported in the literature in individuals affected with ALG2-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 107 of the ALG2 protein (p.Glu107Lys).

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