Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Department of Laboratory Medicine, |
RCV000210102 | SCV000266081 | pathogenic | Lynch syndrome | 2015-11-20 | criteria provided, single submitter | clinical testing | |
Clinical Genetics and Genomics, |
RCV001269797 | SCV001450066 | pathogenic | not provided | 2020-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347819 | SCV002648038 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-11-07 | criteria provided, single submitter | clinical testing | The c.1201_1202dupTT pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from a duplication of TT at nucleotide position 1201, causing a translational frameshift with a predicted alternate stop codon (p.L401Ffs*12). 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. |
Myriad Genetics, |
RCV003454552 | SCV004187043 | pathogenic | Lynch syndrome 1 | 2023-07-31 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Invitae | RCV003593937 | SCV004324862 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-09-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu401Phefs*12) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 224533). For these reasons, this variant has been classified as Pathogenic. |