Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708174 | SCV000837284 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 7-9 of the MLH1 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). A similar copy number variant has been observed in individuals with Lynch syndrome (PMID: 14729822, 16423994, 20587412). For these reasons, this variant has been classified as Pathogenic. |