Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001898122 | SCV002160781 | uncertain significance | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | 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"). 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 22 of the NTHL1 protein (p.Ser22Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. |
| Ambry Genetics | RCV002361172 | SCV002659254 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-20 | criteria provided, single submitter | clinical testing | The p.S22R variant (also known as c.64A>C), located in coding exon 1 of the NTHL1 gene, results from an A to C substitution at nucleotide position 64. The serine at codon 22 is replaced by arginine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |