Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814388 | SCV000954796 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422813 | SCV002723064 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-17 | criteria provided, single submitter | clinical testing | The p.Q681H variant (also known as c.2043A>C), located in coding exon 13 of the MSH2 gene, results from an A to C substitution at nucleotide position 2043. The glutamine at codon 681 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV003324799 | SCV004030645 | uncertain significance | not provided | 2023-08-08 | criteria provided, single submitter | clinical testing | Published functional studies suggest a neutral effect: restored mismatch repair (MMR) function in a MSH2 knockout cell line (Jia et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18822302, 21120944, 33357406) |
All of Us Research Program, |
RCV004001761 | SCV004825228 | uncertain significance | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |