Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000981571 | SCV001129545 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-10-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002382213 | SCV002692432 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
| Department of Pathology and Laboratory Medicine, |
RCV001357325 | SCV001552767 | uncertain significance | Malignant tumor of breast | no assertion criteria provided | clinical testing | The MSH2 p.Leu433= variant was not identified in the literature nor was it identified in dbSNP, ClinVar, UMD-LSDB, Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The p.Leu433= 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. The variant occurs at a non-highly conserved nucleotide outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. 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. |