ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.856T>G (p.Trp286Gly)

dbSNP: rs794727931
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences RCV000590852 SCV000693887 pathogenic ALG8 congenital disorder of glycosylation 2017-07-15 criteria provided, single submitter clinical testing
GeneDx 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 (ga) RCV000180366 SCV000232779 uncertain significance not provided 2017-06-28 flagged submission clinical testing

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