Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075262 | SCV000106248 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
Invitae | RCV000462362 | SCV000563816 | pathogenic | Lynch syndrome | 2016-07-14 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 14 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. A similar deletion has been reported in the literature in at least one individual from a family with hereditary nonpolyposis colorectal cancer (PMID: 14729822). For these reasons, this variant has been classified as Pathogenic. |