Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781739 | SCV000920027 | uncertain significance | not specified | 2018-01-29 | criteria provided, single submitter | clinical testing | Variant summary: PMS2 c.1145-17delinsGGAG alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing. 3/5 computational tools predict that this variant may create a novel 3' splicing acceptor site (Alamut). However, these predictions have yet to be confirmed by functional studies. The variant was absent from 264976 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1145-17delinsGGAG in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on splicing and protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance. |