Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004051024 | SCV002644649 | uncertain significance | not specified | 2022-08-29 | criteria provided, single submitter | clinical testing | The p.E170D variant (also known as c.510A>T), located in coding exon 2 of the GALNT12 gene, results from an A to T substitution at nucleotide position 510. The glutamic acid at codon 170 is replaced by aspartic acid, 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. |
| Labcorp Genetics |
RCV003096618 | SCV002963849 | uncertain significance | not provided | 2022-04-30 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 170 of the GALNT12 protein (p.Glu170Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected 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. |
| Baylor Genetics | RCV004572300 | SCV005058830 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2024-01-18 | criteria provided, single submitter | clinical testing |