Submissions for variant NM_005660.3(SLC35A2):c.566G>A (p.Gly189Glu)

gnomAD frequency: 0.00006  dbSNP: rs782745496

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001359855	SCV001555742	uncertain significance	SLC35A2-congenital disorder of glycosylation	2025-01-12	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 189 of the SLC35A2 protein (p.Gly189Glu). This variant is present in population databases (rs782745496, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with SLC35A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1051772). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SLC35A2 protein function with a negative predictive value of 80%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics	RCV001359855	SCV002812677	uncertain significance	SLC35A2-congenital disorder of glycosylation	2021-08-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003222310	SCV003917784	uncertain significance	not provided	2023-03-01	criteria provided, single submitter	clinical testing