Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001043838 | SCV001207605 | uncertain significance | not provided | 2023-07-26 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 841583). This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.312_314del, results in the deletion of 1 amino acid(s) of the NTHL1 protein (p.Asn104del), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV004031332 | SCV005019848 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-12 | criteria provided, single submitter | clinical testing | The c.312_314delCAA variant (also known as p.N104del) is located in coding exon 2 of the NTHL1 gene. This variant results from an in-frame CAA deletion at nucleotide positions 312 to 314. This results in the in-frame deletion of an asparagine at codon 104. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this alteration remains unclear. |