Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000435961 | SCV000515778 | likely benign | not specified | 2015-10-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284325 | SCV001470052 | likely benign | not provided | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002524825 | SCV002932755 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-06-16 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000502345 | SCV000592918 | uncertain significance | Endometrial carcinoma | no assertion criteria provided | clinical testing | PMS2, EXON 1, c.23+7G>T, p.?, Variant of Unknown Significance (ACMG 3) The c.23+7G>T variant was not identified in the literature nor was it identified in the 1000 Genomes Project, HGMD, COSMIC, MutDB, “Mismatch Repair Genes Variant Database”, “MMR Gene Unclassified Variants Database”, “InSiGHT Colon Cancer Database”, “Zhejiang Colon Cancer Database” or ClinVar databases. The DNA NOMENCLATURE variant occurs outside of the splicing consensus sequence and in silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) does not predict a difference in splicing in 5 of 5 different programs. (However, this information is not predictive enough to rule out pathogenicity.) In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance. |