ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.350G>C (p.Arg117Pro) (rs370434427)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lab Thiel (Congenital Disorders of Glycosylation),Center for Child and Adolescent Medicine RCV000754836 SCV000864224 pathogenic ALG3-CDG 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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