Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076551 | SCV000107581 | uncertain significance | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Insufficient evidence: elongates protein by 17 amino acids |
Invitae | RCV002514354 | SCV003266623 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2023-06-09 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 91049). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the MSH2 gene (p.Thr933Asnfs*20). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acid(s) of the MSH2 protein and extend the protein by 17 additional amino acid residues. |