Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Arab Genomic Studies, |
RCV000590852 | SCV000693887 | pathogenic | ALG8 congenital disorder of glycosylation | 2017-07-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000180366 | SCV001983916 | likely pathogenic | not provided | 2021-07-09 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23806237, 27535533, 28940310) |
Invitae | RCV000590852 | SCV002260488 | pathogenic | ALG8 congenital disorder of glycosylation | 2023-08-04 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 286 of the ALG8 protein (p.Trp286Gly). This missense change has been observed in individual(s) with clinical features of ALG8-congenital disorder of glycosylation (PMID: 23806237, 28940310; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 198905). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ALG8 protein function. For these reasons, this variant has been classified as Pathogenic. |
Eurofins Ntd Llc |
RCV000180366 | SCV000232779 | uncertain significance | not provided | 2017-06-28 | flagged submission | clinical testing |