Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| International Society for Gastrointestinal Hereditary Tumours |
RCV000076463 | SCV000107492 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
| Invitae | RCV001854327 | SCV002242026 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2020-12-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been reported in individual(s) in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 90961). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr788Tyrfs*11) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). |
| Ambry Genetics | RCV002444539 | SCV002735109 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-07-26 | criteria provided, single submitter | clinical testing | The c.2361dupT pathogenic mutation, located in coding exon 14 of the MSH2 gene, results from a duplication of T at nucleotide position 2361, causing a translational frameshift with a predicted alternate stop codon (p.T788Yfs*11). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Laboratory for Genotyping Development, |
RCV003162496 | SCV002758266 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |