Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001928141 | SCV002182364 | uncertain significance | not provided | 2021-05-25 | criteria provided, single submitter | clinical testing | 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: "Deleterious"; PolyPhen-2: "Probably 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with methionine at codon 260 of the GALNT12 protein (p.Ile260Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. |
| Ambry Genetics | RCV004043295 | SCV002673065 | uncertain significance | not specified | 2022-04-11 | criteria provided, single submitter | clinical testing | The p.I260M variant (also known as c.780C>G), located in coding exon 4 of the GALNT12 gene, results from a C to G substitution at nucleotide position 780. The isoleucine at codon 260 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. 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 | RCV003471040 | SCV004198469 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2023-05-31 | criteria provided, single submitter | clinical testing |