Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011459 | SCV001171781 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-01-31 | criteria provided, single submitter | clinical testing | The c.1415dupC pathogenic mutation, located in coding exon 9 of the MSH2 gene, results from a duplication of C at nucleotide position 1415, causing a translational frameshift with a predicted alternate stop codon (p.S473Ffs*3). 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. |
Invitae | RCV001860667 | SCV002142079 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2021-02-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 819157). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser473Phefs*3) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). |
Myriad Genetics, |
RCV003455071 | SCV004187846 | pathogenic | Lynch syndrome 1 | 2023-08-02 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |