Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000819947 | SCV000960635 | uncertain significance | not provided | 2021-09-16 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with arginine at codon 160 of the NTHL1 protein (p.Thr160Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine. |
| Ambry Genetics | RCV002336704 | SCV002639550 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-05 | criteria provided, single submitter | clinical testing | The p.T160R variant (also known as c.479C>G), located in coding exon 3 of the NTHL1 gene, results from a C to G substitution at nucleotide position 479. The threonine at codon 160 is replaced by arginine, 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. |