Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000686879 | SCV000814419 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2023-08-24 | criteria provided, single submitter | clinical testing | This variant, c.759_764del, is a complex sequence change that results in the deletion of 2 amino acids and insertion of 1 amino acid(s) in the PMS2 protein (p.Glu253_Tyr255delinsAsp). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 566935). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV001026591 | SCV001189006 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-18 | criteria provided, single submitter | clinical testing | The c.759_764delAGAGTA variant (also known as p.E253_Y255delinsD) is located in coding exon 7 of the PMS2 gene. This variant results from an in-frame AGAGTA deletion at nucleotide positions 759 to 764. This results in the deletion of two amino acids and the insertion of one amino acid between codons 253 and 255. This amino acid region is well 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. |