Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076131 | SCV000107146 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Ambry Genetics | RCV000491723 | SCV000580541 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-10-24 | criteria provided, single submitter | clinical testing | The c.1352_1353delAG pathogenic mutation, located in coding exon 8 of the MSH2 gene, results from a deletion of 2 nucleotides between positions 1352 and 1353, causing a translational frameshift with a predicted alternate stop codon. This mutation has been reported in one Lynch syndrome family that met Bethesda criteria (Syngal S et al. JAMA. 1999 Jul 21;282(3):247-53). In addition to the clinical data presented in the literature, and since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Color Diagnostics, |
RCV000491723 | SCV000905227 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-04-29 | criteria provided, single submitter | clinical testing | This variant deletes 2 nucleotides in exon 8 of the MSH2 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, functional studies have not been reported for this variant. This variant has been reported in at least one individual affected with Lynch Syndrome (PMID: 12067992). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Myriad Genetics, |
RCV003452824 | SCV004188006 | pathogenic | Lynch syndrome 1 | 2023-08-01 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |