Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001226575 | SCV001398895 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-06-19 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 954166). For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.1168_1169insG. This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 28449805). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu390Glyfs*5) 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). |
| Ambry Genetics | RCV002327538 | SCV002629496 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | The c.1168dupG pathogenic mutation, located in coding exon 12 of the MLH1 gene, results from a duplication of G at nucleotide position 1168, causing a translational frameshift with a predicted alternate stop codon (p.E390Gfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV003449714 | SCV004186534 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-19 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |