ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.350G>C (p.Arg117Pro)

gnomAD frequency: 0.00001  dbSNP: rs370434427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000754836 SCV001737099 pathogenic ALG3-congenital disorder of glycosylation criteria provided, single submitter research
Lab Thiel (Congenital Disorders of Glycosylation), Center for Child and Adolescent Medicine RCV000754836 SCV000864224 pathogenic ALG3-congenital disorder of glycosylation no assertion criteria provided research This variant was found together with c.286G>A in a patient suffering from ALG3-CDG. This glycosylation deficiency was biochemically approved by analysis of dolichol-linked oligosaccharides. The variant is absent from large population studies. In summary, the p.R117P variant meets our criteria to be classified as pathogenic.

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