Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033209 | SCV001196516 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-04-24 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon(s) 8 of the MSH2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). A similar copy number variant has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 21642682, 28135145, 29405992). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. |