Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002322948 | SCV002610824 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-12 | criteria provided, single submitter | clinical testing | The p.D107H variant (also known as c.319G>C), located in coding exon 2 of the NTHL1 gene, results from a G to C substitution at nucleotide position 319. The aspartic acid at codon 107 is replaced by histidine, 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. |
| Labcorp Genetics |
RCV003099284 | SCV002952162 | uncertain significance | not provided | 2022-09-24 | 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 affected with NTHL1-related conditions. This variant is present in population databases (rs760130778, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 107 of the NTHL1 protein (p.Asp107His). |