Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002404055 | SCV002711228 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-12-19 | criteria provided, single submitter | clinical testing | The c.177delT pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 177, causing a translational frameshift with a predicted alternate stop codon (p.Q60Rfs*32). 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, |
RCV003454285 | SCV004186343 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-11 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
All of Us Research Program, |
RCV004007362 | SCV004834292 | pathogenic | Lynch syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 2/19 of the MLH1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with MLH1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MLH1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |