Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002012638 | SCV002278096 | uncertain significance | not provided | 2022-06-08 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 10 of the NTHL1 protein (p.Thr10Pro). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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. |
| Ambry Genetics | RCV002441174 | SCV002751828 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-23 | criteria provided, single submitter | clinical testing | The p.T10P variant (also known as c.28A>C), located in coding exon 1 of the NTHL1 gene, results from an A to C substitution at nucleotide position 28. The threonine at codon 10 is replaced by proline, 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. |
| Baylor Genetics | RCV004571927 | SCV005053741 | uncertain significance | Familial adenomatous polyposis 3 | 2024-01-12 | criteria provided, single submitter | clinical testing |