Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075469 | SCV000106467 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Interrupts canonical acceptor splice site |
Invitae | RCV000690743 | SCV000818444 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2018-01-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). This variant segregates with Lynch syndrome in at least one family affected with Lynch syndrome or Lynch-syndrome related cancers (PMID: 15365996, Invitae). ClinVar contains an entry for this variant (Variation ID: 89987). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 17 of the MLH1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Baylor Genetics | RCV003466957 | SCV004193041 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2022-07-20 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000202242 | SCV000257080 | likely pathogenic | not provided | no assertion criteria provided | research |