Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002378143 | SCV002668258 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-19 | criteria provided, single submitter | clinical testing | The p.T232A variant (also known as c.694A>G), located in coding exon 4 of the NTHL1 gene, results from an A to G substitution at nucleotide position 694. The threonine at codon 232 is replaced by alanine, 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004999717 | SCV005623931 | uncertain significance | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | The NTHL1 c.694A>G (p.Thr232Ala) variant has not been reported in individuals with NTHL1-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 benign. Based on the available information, we are unable to determine the clinical significance of this variant. |