Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471789 | SCV000551058 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2018-08-30 | criteria provided, single submitter | clinical testing | This sequence change deletes 3 nucleotides from exon 4 of the MSH6 mRNA (c.1912_1914delCTT). This leads to the deletion of 1 amino acid residue in the MSH6 protein (p.Leu638del) but otherwise preserves the integrity of the reading frame. In summary, this is a novel in-frame deletion of a single amino acid residue with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MSH6-related disease. |
All of Us Research Program, |
RCV004001823 | SCV004822148 | uncertain significance | Lynch syndrome | 2023-04-03 | criteria provided, single submitter | clinical testing | This variant causes the in-frame deletion of one amino acid of the MSH6 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has not been identified 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. |