Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002021502 | SCV002310533 | uncertain significance | not provided | 2021-03-21 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with NTHL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 15 of the NTHL1 protein (p.Arg15Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. |
| Ambry Genetics | RCV004651914 | SCV005140442 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-19 | criteria provided, single submitter | clinical testing | The p.R15S variant (also known as c.45G>C), located in coding exon 1 of the NTHL1 gene, results from a G to C substitution at nucleotide position 45. The arginine at codon 15 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |