Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074710 | SCV000107917 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV000162397 | SCV000212720 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-03-09 | criteria provided, single submitter | clinical testing | Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Other acmg-defined mutation (i.e. initiation codon or gross deletion);Other data supporting pathogenic classification |
Gene |
RCV000201965 | SCV000490620 | pathogenic | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | This pathogenic variant is denoted MSH6 c.2061T>A at the cDNA level and p.Cys687Ter (C687X) atthe protein level. The substitution creates a nonsense variant, which changes a Cysteine to a premature stop codon(TGT>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in an individual with a tubular adenoma and in a Scottish familywith multiple cases of colorectal or Lynch syndrome cancers (Pino 2009, Baglietto 2010), and is consideredpathogenic. |
Department of Pathology and Laboratory Medicine, |
RCV000074710 | SCV000592595 | pathogenic | Lynch syndrome | 2015-08-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000530716 | SCV000624721 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-10-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys687*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Lynch syndrome (PMID: 19324997). ClinVar contains an entry for this variant (Variation ID: 89246). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic. |
Color | RCV000162397 | SCV000685252 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000201965 | SCV000257218 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |