Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004024532 | SCV000673538 | uncertain significance | not specified | 2023-03-27 | criteria provided, single submitter | clinical testing | The p.G447R variant (also known as c.1339G>A), located in coding exon 7 of the GALNT12 gene, results from a G to A substitution at nucleotide position 1339. The glycine at codon 447 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Fulgent Genetics, |
RCV000766032 | SCV000897471 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001060431 | SCV001225118 | uncertain significance | not provided | 2024-11-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 447 of the GALNT12 protein (p.Gly447Arg). This variant is present in population databases (rs376441206, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. 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: 485649). 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001060431 | SCV004219753 | likely benign | not provided | 2023-08-09 | criteria provided, single submitter | clinical testing |