Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075843 | SCV000106857 | pathogenic | Lynch syndrome | 2018-10-18 | reviewed by expert panel | curation | Multifactorial likelihood analysis posterior probability >0.99 |
Invitae | RCV001379077 | SCV001576809 | likely pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2020-06-06 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Based on a multifactorial likelihood algorithm using genetic, clinical, in silico and functional data, this variant has been determined to have a high probability of being pathogenic (PMID: 24362816) This variant has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 9833759, 29255760, Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as 262delATC in the literature. This variant is not present in population databases (ExAC no frequency). This variant, c.785_787del, results in the deletion of 1 amino acid(s) of the MLH1 protein (p.Ile262del), but otherwise preserves the integrity of the reading frame. |