Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004059075 | SCV002703822 | uncertain significance | not specified | 2023-11-02 | criteria provided, single submitter | clinical testing | The p.M518V variant (also known as c.1552A>G), located in coding exon 9 of the GALNT12 gene, results from an A to G substitution at nucleotide position 1552. The methionine at codon 518 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |
| Labcorp Genetics |
RCV003096919 | SCV003507932 | uncertain significance | not provided | 2022-03-21 | criteria provided, single submitter | clinical testing | 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 tolerated. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 518 of the GALNT12 protein (p.Met518Val). This variant is present in population databases (rs770337578, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. 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. |
| Baylor Genetics | RCV004572423 | SCV005058799 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2024-03-08 | criteria provided, single submitter | clinical testing |