Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000823544 | SCV000964406 | pathogenic | not provided | 2025-02-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser139Glnfs*30) in the NTHL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NTHL1 are known to be pathogenic (PMID: 25938944, 26559593). 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. ClinVar contains an entry for this variant (Variation ID: 665291). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002332722 | SCV002630230 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-07 | criteria provided, single submitter | clinical testing | The c.415_416delTC pathogenic mutation, located in coding exon 3 of the NTHL1 gene, results from a deletion of two nucleotides at nucleotide positions 415 to 416, causing a translational frameshift with a predicted alternate stop codon (p.S139Qfs*30). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV003458218 | SCV004188364 | pathogenic | Familial adenomatous polyposis 3 | 2023-09-05 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Baylor Genetics | RCV003458218 | SCV004192185 | likely pathogenic | Familial adenomatous polyposis 3 | 2023-01-31 | criteria provided, single submitter | clinical testing |