Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004057722 | SCV002695237 | uncertain significance | not specified | 2024-09-18 | criteria provided, single submitter | clinical testing | The p.M332T variant (also known as c.995T>C), located in coding exon 5 of the GALNT12 gene, results from a T to C substitution at nucleotide position 995. The methionine at codon 332 is replaced by threonine, an amino acid with 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004999731 | SCV005623164 | uncertain significance | not provided | 2024-10-16 | criteria provided, single submitter | clinical testing | The GALNT12 c.995T>C (p.Met332Thr) variant has not been reported in individuals with GALNT12-related conditions 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 damaging. Based on the available information, we are unable to determine the clinical significance of this variant. |