Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076775 | SCV000107814 | pathogenic | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Multifactorial likelihood analysis posterior probability >0.99 |
Invitae | RCV003593904 | SCV004292549 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-10-10 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 330 of the MSH2 protein (p.Leu330Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 12624141, 27601186, 28577310). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 91270). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 33357406) indicates that this missense variant is expected to disrupt MSH2 function. For these reasons, this variant has been classified as Pathogenic. |
Medical Genetics Laboratory, |
RCV001554291 | SCV001774879 | pathogenic | Colonic diverticula | 2021-08-08 | no assertion criteria provided | clinical testing |