Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000457848 | SCV000551388 | uncertain significance | not provided | 2021-02-19 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with leucine at codon 569 of the GALNT12 protein (p.Ser569Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with GALNT12-related disease. ClinVar contains an entry for this variant (Variation ID: 410572). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 | RCV004022788 | SCV002715552 | uncertain significance | not specified | 2023-06-15 | criteria provided, single submitter | clinical testing | The p.S569L variant (also known as c.1706C>T), located in coding exon 10 of the GALNT12 gene, results from a C to T substitution at nucleotide position 1706. The serine at codon 569 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000457848 | SCV002774600 | uncertain significance | not provided | 2021-06-10 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003463945 | SCV004196129 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2024-01-16 | criteria provided, single submitter | clinical testing |