Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075213 | SCV000106205 | likely pathogenic | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Multifactorial likelihood analysis posterior probability 0.95-0.99 |
Invitae | RCV001069994 | SCV001235200 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-12-19 | criteria provided, single submitter | clinical testing | This variant has been reported to affect MLH1 protein function (PMID: 21404117). This variant has been observed in individual(s) with Lynch syndrome (PMID: 22395473, 21404117). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 89739). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 48 of the MLH1 protein (p.Gln48Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003451028 | SCV004188487 | likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-11 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 30504929]. This variant is expected to disrupt protein structure [Myriad internal data]. |