Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075271 | SCV000106265 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Color Diagnostics, |
RCV001180387 | SCV001345308 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-02-04 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 14 of the MLH1 gene, creating a 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 hereditary cancer 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. |
Ambry Genetics | RCV001180387 | SCV002709447 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-11-15 | criteria provided, single submitter | clinical testing | The p.L525* pathogenic mutation (also known as c.1574T>A), located in coding exon 14 of the MLH1 gene, results from a T to A substitution at nucleotide position 1574. This changes the amino acid from a leucine to a stop codon within coding exon 14. 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, |
RCV003451038 | SCV004186302 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-20 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |