Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075865 | SCV000106882 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Variant causes splicing aberration: full inactivation of variant allele. |
Color Diagnostics, |
RCV000579445 | SCV000684869 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-03 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000075865 | SCV000838004 | pathogenic | Lynch syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262553 | SCV001440474 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001379645 | SCV001577481 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-05-26 | criteria provided, single submitter | clinical testing | This variant has been observed in individuals with Lynch syndrome (PMID: 16395668, 18561205; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the MLH1 gene. It does not directly change the encoded amino acid sequence of the MLH1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. ClinVar contains an entry for this variant (Variation ID: 90374). For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 16395668, 18561205, 26761715). |
Human Genetics Bochum, |
RCV001262553 | SCV002758613 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2021-11-26 | criteria provided, single submitter | clinical testing | ACMG criteria used to clasify this variant: PVS1, PM2, PS3 |
Ce |
RCV002512058 | SCV002821174 | likely pathogenic | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | MLH1: PM2, PS3:Moderate, PP4, PS4:Supporting |