Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001454810 | SCV001658549 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-02-04 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004007053 | SCV004834350 | uncertain significance | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | This variant causes a T to C nucleotide substitution at the -6 position of intron 18/18 of the MLH1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has been observed in an individual affected with colorectal with intact mismatch repair proteins, as well as in two control individuals (PMID: 30324682). 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. |