Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001920486 | SCV002182957 | uncertain significance | not provided | 2021-04-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 188 of the GALNT12 protein (p.Ala188Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant has not been reported in the literature in individuals with GALNT12-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV004043320 | SCV002652883 | uncertain significance | not specified | 2022-08-11 | criteria provided, single submitter | clinical testing | The p.A188V variant (also known as c.563C>T), located in coding exon 3 of the GALNT12 gene, results from a C to T substitution at nucleotide position 563. The alanine at codon 188 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |