Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004048447 | SCV002609018 | uncertain significance | not specified | 2022-03-12 | criteria provided, single submitter | clinical testing | The p.I105F variant (also known as c.313A>T), located in coding exon 1 of the GALNT12 gene, results from an A to T substitution at nucleotide position 313. The isoleucine at codon 105 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. 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 | RCV004999689 | SCV005623157 | uncertain significance | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | The GALNT12 c.313A>T (p.Ile105Phe) variant has not been reported in individuals with GALNT12-related conditions in the published literature. The frequency of this variant in the general population, 0.0000066 (1/151868 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Based on the available information, we are unable to determine the clinical significance of this variant. |