Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004030335 | SCV001172583 | uncertain significance | not specified | 2023-05-28 | criteria provided, single submitter | clinical testing | The p.P52L variant (also known as c.155C>T), located in coding exon 1 of the GALNT12 gene, results from a C to T substitution at nucleotide position 155. The proline at codon 52 is replaced by leucine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003461324 | SCV004196134 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2023-10-16 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478613 | SCV004219760 | uncertain significance | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing | This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |