Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001236382 | SCV001409105 | uncertain significance | not provided | 2022-07-06 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 962513). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 259 of the GALNT12 protein (p.Val259Gly). This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV004033308 | SCV002674915 | uncertain significance | not specified | 2024-02-20 | criteria provided, single submitter | clinical testing | The p.V259G variant (also known as c.776T>G), located in coding exon 4 of the GALNT12 gene, results from a T to G substitution at nucleotide position 776. The valine at codon 259 is replaced by glycine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003469436 | SCV004198431 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2024-01-11 | criteria provided, single submitter | clinical testing |