Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076287 | SCV000107309 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Ambry Genetics | RCV000491048 | SCV000580425 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-11-22 | criteria provided, single submitter | clinical testing | The c.1787dupA pathogenic mutation, located in coding exon 12 of the MSH2 gene, results from a duplication of A at nucleotide position 1787, causing a translational frameshift with a predicted alternate stop codon (p.N596Kfs*2). This mutation was described in a patient with six primary cancers, beginning with cancer of the ascending colon at 37 years (Okamura S et al. J Hum Genet. 1998;43(2):143-5). In addition to the clinical data presented in the literature, 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. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003137612 | SCV003807683 | pathogenic | Lynch syndrome 1 | 2022-10-13 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderated |