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 Congenital disorder of glycosylation type 1D 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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