Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075942 | SCV000106958 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV000629737 | SCV000750693 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2018-01-29 | criteria provided, single submitter | clinical testing | Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic. This variant has been reported in an individual affected with colon cancer (PMID: 11606497). This variant is also known as 938Ains. in the literature. ClinVar contains an entry for this variant (Variation ID: 90449). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val314Serfs*48) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV003452790 | SCV004188604 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-18 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |