Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672513 | SCV000797623 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000672513 | SCV001393441 | pathogenic | ALG6-congenital disorder of glycosylation 1C | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 84 of the ALG6 protein (p.Ala84Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ALG6-congenital disorder of glycosylation (PMID: 26453362, 27287710; Invitae). ClinVar contains an entry for this variant (Variation ID: 556498). 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 ALG6 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Centre for Inherited Metabolic Diseases, |
RCV000672513 | SCV001571360 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2021-04-13 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000672513 | SCV004197366 | likely pathogenic | ALG6-congenital disorder of glycosylation 1C | 2023-04-06 | criteria provided, single submitter | clinical testing |