Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001304308 | SCV001493584 | uncertain significance | not provided | 2024-11-18 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 148 of the NTHL1 protein (p.Ala148Val). This variant is present in population databases (rs750992242, gnomAD 0.002%). 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: 1007163). 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 disruptive. 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. |
| Ambry Genetics | RCV002327666 | SCV002632582 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-15 | criteria provided, single submitter | clinical testing | The p.A148V variant (also known as c.443C>T), located in coding exon 3 of the NTHL1 gene, results from a C to T substitution at nucleotide position 443. The alanine at codon 148 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003462871 | SCV004192146 | uncertain significance | Familial adenomatous polyposis 3 | 2024-02-21 | criteria provided, single submitter | clinical testing |