Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| International Society for Gastrointestinal Hereditary Tumours |
RCV000075159 | SCV000106150 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
| Invitae | RCV000815020 | SCV000955460 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-11-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 89686). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 16451135). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp418Tyrfs*3) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284160 | SCV001469788 | pathogenic | not provided | 2020-01-16 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |
| Myriad Genetics, |
RCV003451015 | SCV004187737 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-19 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |