ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser) (rs1560162116)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemistry and Genetic Laboratory,APHP Bichat Claude Bernard Hospital RCV000754640 SCV000864390 pathogenic Congenital disorder of glycosylation type 1D 2015-12-03 criteria provided, single submitter clinical testing The c.1037A>G p.Asn346Ser and c.296+4A>G variant in ALG3 have been reported in one boy from French familiy with autosomal recessive psychomotor retardation, macroglossia, nystagmus, cortical atrophy and seizures, and were absent from gnomAD. Transferinn profile indicate CDG type I and LLO profile indicate Man5GlcNAc2-PP-dolichol accumulation in favor of ALG3-CDG diagnosis. In summary, the two ALG3 variant meet ACMG criteria to be classified as pathogenic based upon absence from controls, computational and functional evidence.

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