Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004052590 | SCV002656622 | uncertain significance | not specified | 2024-11-11 | criteria provided, single submitter | clinical testing | The p.R201C variant (also known as c.601C>T), located in coding exon 3 of the GALNT12 gene, results from a C to T substitution at nucleotide position 601. The arginine at codon 201 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant has been identified in at least one patient with a personal and family history of breast and/or ovarian cancer (Maxwell KN et al. Am J Hum Genet, 2016 May;98:801-817). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Baylor Genetics | RCV003471351 | SCV004198464 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2023-06-06 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003776202 | SCV004632490 | uncertain significance | not provided | 2023-05-20 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALNT12 protein function. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 201 of the GALNT12 protein (p.Arg201Cys). This variant is present in population databases (rs372616005, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. ClinVar contains an entry for this variant (Variation ID: 1751115). 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. |