Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205693 | SCV000259856 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000575149 | SCV000663454 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-23 | 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. |
Counsyl | RCV000662464 | SCV000784946 | uncertain significance | Lynch syndrome 4 | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000575149 | SCV000910994 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193970 | SCV001363167 | uncertain significance | not specified | 2019-01-18 | criteria provided, single submitter | clinical testing | Variant summary: The variant, PMS2 c.139C>G (p.Leu47Val) results in a conservative amino acid change located in the DNA mismatch repair protein family, N-terminal domain and Histidine kinase/HSP90-like ATPase domain of the encoded protein sequence. Several in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.9e-05 in 240416 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.139C>G in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (uncertain significance (2) and Likely benign (1)). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Sema4, |
RCV000575149 | SCV002529790 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-23 | criteria provided, single submitter | curation | |
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153480 | SCV003843525 | benign | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000662464 | SCV004019857 | uncertain significance | Lynch syndrome 4 | 2023-04-04 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
All of Us Research Program, |
RCV003997581 | SCV004842154 | likely benign | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |