Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000239864 | SCV000299147 | pathogenic | Lynch syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 4 of the MLH1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in MLH1 are known to be pathogenic. Deletion of exon 4 has been reported in individuals and families with colorectal cancer and/or Lynch syndrome (PMID: 11857745, 14635101, 15942939). ClinVar contains an entry for this variant (Variation ID: 218024). For these reasons, this variant has been classified as Pathogenic. |
Mayo Clinic Laboratories, |
RCV000201974 | SCV000257095 | pathogenic | not provided | no assertion criteria provided | research |