Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075315 | SCV000106309 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV000524872 | SCV000625091 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2021-02-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Lynch syndrome (PMID: 12624141, 21642682, 18772310, 24344984). This variant is also known as 1689del4. ClinVar contains an entry for this variant (Variation ID: 89841). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu564Phefs*26) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). |
Myriad Genetics, |
RCV003451052 | SCV004186509 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-21 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |