Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004054411 | SCV002666683 | uncertain significance | not specified | 2023-08-24 | criteria provided, single submitter | clinical testing | The p.A219V variant (also known as c.656C>T), located in coding exon 3 of the GALNT12 gene, results from a C to T substitution at nucleotide position 656. The alanine at codon 219 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003476969 | SCV004219791 | uncertain significance | not provided | 2022-12-09 | criteria provided, single submitter | clinical testing | The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (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. Additional analysis using software algorithms for the prediction of the effect of nucleotide changes on GALNT12 mRNA splicing yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites . Based on the available information, we are unable to determine the clinical significance of this variant. |
| Baylor Genetics | RCV004572331 | SCV005058852 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2023-11-19 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003476969 | SCV005775823 | uncertain significance | not provided | 2024-12-28 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 219 of the GALNT12 protein (p.Ala219Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. ClinVar contains an entry for this variant (Variation ID: 1754232). 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 GALNT12 protein function with a negative predictive value of 80%. 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. |