Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003156702 | SCV003845917 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | Describes a nucleotide substitution 6 base pairs upstream of the ATG translational start site of the MLH1 gene, occurring in the Kozak sequence, the nucleotides which play a major role in the initiation of translation; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
All of Us Research Program, |
RCV004009625 | SCV004826154 | uncertain significance | Lynch syndrome | 2023-05-30 | criteria provided, single submitter | clinical testing | This variant is located in the 5' untranslated region of the MLH1 gene.. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MLH1-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. |