Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000536931 | SCV000624575 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2018-05-09 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 14 of the MSH2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exon 14 has been observed in individuals affected with hereditary non-polyposis colorectal cancer (PMID: 26437257, 18931482). ClinVar contains an entry for deletion of exon 14 (Variation ID: 90931). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic. |