Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001016517 | SCV001177479 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-17 | criteria provided, single submitter | clinical testing | The c.2759_2761delATA variant (also known as p.N920del) is located in coding exon 16 of the MSH2 gene. This variant results from an in-frame ATA deletion at nucleotide positions 2759 to 2761. This results in the in-frame deletion of an asparagine residue at codon 920. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al., PLoS ONE 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001305455 | SCV001494790 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2024-04-29 | criteria provided, single submitter | clinical testing | This variant, c.2759_2761del, results in the deletion of 1 amino acid(s) of the MSH2 protein (p.Asn920del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Ding PR Lab, |
RCV001093658 | SCV001250838 | uncertain significance | Lynch syndrome 1 | no assertion criteria provided | clinical testing |