Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001054197 | SCV001218500 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2024-12-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp132Metfs*4) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MLH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 850102). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002374922 | SCV002625164 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-03-09 | criteria provided, single submitter | clinical testing | The c.393delA pathogenic mutation, located in coding exon 5 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 393, causing a translational frameshift with a predicted alternate stop codon (p.S131Sfs*5). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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, |
RCV003455241 | SCV004189999 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-13 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Baylor Genetics | RCV003455241 | SCV004193060 | likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2022-01-20 | criteria provided, single submitter | clinical testing | |
| Medical Genetics Laboratory, |
RCV001554268 | SCV001774873 | pathogenic | Breast carcinoma | 2021-08-09 | no assertion criteria provided | clinical testing |