Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002047454 | SCV002117325 | uncertain significance | not provided | 2022-08-21 | 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: "Benign"; Align-GVGD: "Not Available"). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 105 of the NTHL1 protein (p.Lys105Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1352244). |
| Ambry Genetics | RCV002324235 | SCV002610433 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-03-20 | criteria provided, single submitter | clinical testing | The p.K105T variant (also known as c.314A>C), located in coding exon 2 of the NTHL1 gene, results from an A to C substitution at nucleotide position 314. The lysine at codon 105 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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. |