Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
All of Us Research Program, |
RCV004017043 | SCV004839829 | uncertain significance | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing | This missense variant replaces lysine with arginine at codon 413 of the PMS2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature, although a different variant resulting in the same protein change has been reported in an individual affected with lung adenocarcinoma (PMID: 27060149). This variant has been identified in 2/282316 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |