Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562948 | SCV000662093 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-29 | 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. |
Laboratory for Molecular Medicine, |
RCV000610025 | SCV000712635 | uncertain significance | not specified | 2016-11-17 | criteria provided, single submitter | clinical testing | The p.Arg127Arg variant in MLH1 has been reported in 1 individual with colon can cer by the International Society for Gastrointestinal Hereditary Tumours (InSiGH T) variation database (http://chromium.lovd.nl/LOVD2/colon_cancer), and was abse nt from large population studies. This variant does not change an amino acid but is located in the last three bases of the exon, which is part of the 5? splice region. Computational tools predict a possible impact to splicing. However, this information is not predictive enough to determine pathogenicity. In summary, th e clinical significance of the p.Arg127Arg variant is uncertain. |
Invitae | RCV000689143 | SCV000816783 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001549990 | SCV001770242 | uncertain significance | not provided | 2023-07-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |