Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000167895 | SCV000218541 | pathogenic | Lynch syndrome | 2014-09-10 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide in exon 14 of the MSH2 mRNA (c.2281delG), creating a premature translational stop signal at codon 762 (p.Leu762*). It 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). This is a novel sequence change that is expected to disrupt MSH2 protein function. For these reasons, this sequence change has been classified as Pathogenic. |
Invitae | RCV001390931 | SCV001592827 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2014-09-10 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide in exon 14 of the MSH2 mRNA (c.2281delG), creating a premature translational stop signal at codon 762 (p.Leu762*). It is expected to result in an absent or disrupted protein product. This is a novel sequence change that is expected to disrupt MSH2 protein function. For these reasons, this sequence change has been classified as Pathogenic. While this particular sequence change has not been reported in the literature, truncating sequence changes in MSH2 are known to be pathogenic (PMID: 15849733). |