Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000476711 | SCV000559198 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-05-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001025225 | SCV001187374 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Color Diagnostics, |
RCV001025225 | SCV001347591 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-12 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV004002134 | SCV004826305 | likely benign | Lynch syndrome | 2023-03-09 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001354981 | SCV001549725 | likely benign | not provided | no assertion criteria provided | clinical testing | The MSH2 p.Arg21= variant was not identified in the literature nor was it identified in the dbSNP, GeneInsight-COGR, MutDB, UMD-LSDB, Insight Colon Cancer Gene Variant, Zhejiang Colon Cancer Database, Mismatch Repair Genes Variant Database, and Insight Hereditary Tumors Databases. The variant was identified in the ClinVar and Clinvitae databases as likely benign by Invitae). The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, and the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.63C>T variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site, however, 1 of 5 in silico or computational prediction software programs (MaxEntScan) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. |