Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076509 | SCV000107538 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Ambry Genetics | RCV000491532 | SCV000580635 | pathogenic | Hereditary cancer-predisposing syndrome | 2012-08-30 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000076509 | SCV000837857 | pathogenic | Lynch syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001386002 | SCV001586073 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln861*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 10480359). ClinVar contains an entry for this variant (Variation ID: 91007). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003452921 | SCV004188004 | pathogenic | Lynch syndrome 1 | 2023-08-09 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |