Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001020379 | SCV001181852 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-08-31 | criteria provided, single submitter | clinical testing | The p.E116K variant (also known as c.346G>A), located in coding exon 2 of the NTHL1 gene, results from a G to A substitution at nucleotide position 346. The glutamic acid at codon 116 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001037264 | SCV001200670 | uncertain significance | not provided | 2023-09-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 823809). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 116 of the NTHL1 protein (p.Glu116Lys). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| Baylor Genetics | RCV003461385 | SCV004192173 | uncertain significance | Familial adenomatous polyposis 3 | 2023-05-26 | criteria provided, single submitter | clinical testing |