Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000778991 | SCV000915430 | uncertain significance | ALG6-congenital disorder of glycosylation 1C | 2018-10-29 | criteria provided, single submitter | clinical testing | The ALG6 c.482A>G (p.Tyr161Cys) variant is a missense variant that has been reported in a homozygous state in at least one individual from Saudi Arabia who was diagnosed with congenital disorder of glycosylation type Ic (Al-Owain et al. 2010; Mohamed et al. 2015). This variant is reported at a frequency of 0.000620 in the Other population of the Genome Aggregation Database. The evidence for the p.Tyr161Cys variant is limited. It is therefore classified as a variant of uncertain significance but suspicious for pathogenicity for congenital disorders of glycosylation. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Invitae | RCV000778991 | SCV000952196 | uncertain significance | ALG6-congenital disorder of glycosylation 1C | 2022-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 161 of the ALG6 protein (p.Tyr161Cys). This variant is present in population databases (rs201354339, gnomAD 0.01%). This missense change has been observed in individual(s) with ALG6-CDG (congenital disorder of glycosylation) (PMID: 20398363). ClinVar contains an entry for this variant (Variation ID: 632114). 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 not expected to disrupt ALG6 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Baylor Genetics | RCV000778991 | SCV001523916 | uncertain significance | ALG6-congenital disorder of glycosylation 1C | 2020-02-06 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV000778991 | SCV002781901 | uncertain significance | ALG6-congenital disorder of glycosylation 1C | 2021-07-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000778991 | SCV001456277 | uncertain significance | ALG6-congenital disorder of glycosylation 1C | 2020-09-16 | no assertion criteria provided | clinical testing |