Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001339196 | SCV001532917 | uncertain significance | not provided | 2024-04-10 | criteria provided, single submitter | clinical testing | This variant, c.62_67dup, results in the insertion of 2 amino acid(s) of the NTHL1 protein (p.Arg21_Ser22dup), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 | RCV002368119 | SCV002656963 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing | The c.62_67dupGGAGCC variant (also known as p.R21_S22dup), located in coding exon 1 of the NTHL1 gene, results from an in-frame duplication of GGAGCC at nucleotide positions 62 to 67. This results in the duplication of 2 extra residues (RS) between codons 21 and 22. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |