Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075885 | SCV000106901 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Counsyl | RCV000662604 | SCV000785242 | likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2017-06-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444534 | SCV002678534 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-25 | criteria provided, single submitter | clinical testing | The c.84delA pathogenic mutation, located in coding exon 1 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 84, causing a translational frameshift with a predicted alternate stop codon (p.A29Lfs*7). 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. |
Invitae | RCV002514346 | SCV003234132 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-09-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 90392). This variant has not been reported in the literature in individuals affected with MLH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala29Leufs*7) 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, |
RCV000662604 | SCV004018134 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-03-14 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |