Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001365863 | SCV001562148 | uncertain significance | not provided | 2023-06-29 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 75 of the GALNT12 protein (p.Leu75Arg). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1056957). 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 GALNT12 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. |
| Ambry Genetics | RCV004036953 | SCV002728907 | uncertain significance | not specified | 2023-08-26 | criteria provided, single submitter | clinical testing | The p.L75R variant (also known as c.224T>G), located in coding exon 1 of the GALNT12 gene, results from a T to G substitution at nucleotide position 224. The leucine at codon 75 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001365863 | SCV005623154 | uncertain significance | not provided | 2024-03-06 | criteria provided, single submitter | clinical testing | The GALNT12 c.224T>G (p.Leu75Arg) variant has not been reported in individuals with GALNT12-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |