Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000576045 | SCV000673821 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-07 | 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, |
RCV000576045 | SCV000689884 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001066875 | SCV001231898 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2019-05-02 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with MLH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 485794). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 144 of the MLH1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MLH1 protein. |
All of Us Research Program, |
RCV004001115 | SCV004835285 | likely benign | Lynch syndrome | 2023-08-23 | criteria provided, single submitter | clinical testing |