Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205831 | SCV001377108 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2022-06-13 | 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. Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt MSH2 protein function. ClinVar contains an entry for this variant (Variation ID: 936921). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 920 of the MSH2 protein (p.Asn920Ser). |
Ambry Genetics | RCV002436791 | SCV002752166 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-03 | criteria provided, single submitter | clinical testing | The p.N920S variant (also known as c.2759A>G), located in coding exon 16 of the MSH2 gene, results from an A to G substitution at nucleotide position 2759. The asparagine at codon 920 is replaced by serine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |