Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000481633 | SCV000572292 | uncertain significance | not provided | 2016-11-14 | criteria provided, single submitter | clinical testing | This variant is denoted MSH6 c.690A>G at the DNA level. Although this variant is silent at the coding level, preserving a Glutamic Acid at codon 230, it is predicted to cause abnormal splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. MSH6 c.690A>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, an adenine (A) at base 690, is conserved in mammals. Based on currently available information, it is unclear whether MSH6 c.690A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
| Color Diagnostics, |
RCV001183212 | SCV001348879 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001183212 | SCV002668175 | likely benign | Hereditary cancer-predisposing syndrome | 2020-04-30 | 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. |
| Invitae | RCV003758791 | SCV004376466 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-03-18 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV004003386 | SCV004836830 | likely benign | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |