Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075006 | SCV000108223 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Myriad Genetics, |
RCV003450989 | SCV004188193 | pathogenic | Lynch syndrome 5 | 2023-08-10 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Ambry Genetics | RCV004019097 | SCV005032965 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.522_523delAG pathogenic mutation, located in coding exon 3 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 522 to 523, causing a translational frameshift with a predicted alternate stop codon (p.R174Sfs*7). This mutation (designated 522delAG) was identified in an individual with two mismatch repair-proficient (MMR-p) tubular adenomas at age 47 (Pino MS et al. J Mol Diagn, 2009 May;11:238-47). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation. |