Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000168130 | SCV000218789 | pathogenic | Lynch syndrome | 2014-11-01 | criteria provided, single submitter | clinical testing | This sequence change inserts 1 nucleotide in exon 4 of the MSH2 mRNA (c.782_783insA), causing a frameshift at codon 261. This creates a premature translational stop signal (p.Met261Ilefs*23) and is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in MSH2 are known to be pathogenic (PMID: 15849733). For these reasons, this sequence change has been classified as Pathogenic. |
Invitae | RCV001389139 | SCV001590390 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2016-11-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This sequence change inserts 1 nucleotide in exon 4 of the MSH2 mRNA (c.782_783insA), causing a frameshift at codon 261. This creates a premature translational stop signal (p.Met261Ilefs*23) and is expected to result in an absent or disrupted protein product. |