Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075376 | SCV000106371 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Labcorp Genetics |
RCV001381499 | SCV001579923 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2020-07-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile611Cysfs*2) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Lynch syndrome (PMID: 15253764). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 89899). Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003451070 | SCV004186307 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-24 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Department of Pathology and Laboratory Medicine, |
RCV001353580 | SCV000592422 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Gene |
RCV001804817 | SCV002054057 | not provided | Lynch syndrome 1 | no assertion provided | literature only |