Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001364495 | SCV001560647 | uncertain significance | not provided | 2020-03-02 | criteria provided, single submitter | clinical testing | 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GALNT12-related conditions. This variant is present in population databases (rs774123474, ExAC 0.01%). This sequence change replaces methionine with isoleucine at codon 518 of the GALNT12 protein (p.Met518Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. |
| Ambry Genetics | RCV004036913 | SCV002704350 | uncertain significance | not specified | 2024-07-13 | criteria provided, single submitter | clinical testing | The p.M518I variant (also known as c.1554G>A), located in coding exon 9 of the GALNT12 gene, results from a G to A substitution at nucleotide position 1554. The methionine at codon 518 is replaced by isoleucine, 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. |