Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471455 | SCV000551994 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change affects codon 197 of the PMS2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PMS2 protein. This variant is present in population databases (rs748518694, gnomAD 0.03%). This variant has been observed in individual(s) with PMS2-related conditions (PMID: 29596542). ClinVar contains an entry for this variant (Variation ID: 411048). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
Ambry Genetics | RCV000571978 | SCV000664750 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-27 | 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. |
Color Diagnostics, |
RCV000571978 | SCV000691087 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571978 | SCV002530363 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-27 | criteria provided, single submitter | curation | |
Gene |
RCV003151778 | SCV003840631 | uncertain significance | not provided | 2023-02-16 | criteria provided, single submitter | clinical testing | In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Identified in the MMR-proficient tumor from an individual with colorectal cancer (Hampel et al., 2018); This variant is associated with the following publications: (PMID: 35451539, 29596542) |