Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461239 | SCV000563813 | pathogenic | Lynch syndrome | 2016-08-19 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2 and 3 of the MLH1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with endometrial cancer and Lynch syndrome (PMID: 24933100, 15483016). For these reasons, this variant has been classified as Pathogenic. |