Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030255 | SCV000052922 | likely pathogenic | Lynch syndrome | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely pathogenic. |
| Ambry Genetics | RCV000162420 | SCV000212761 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-02 | criteria provided, single submitter | clinical testing | The c.860dupG pathogenic mutation, located in coding exon 5 of the MSH2 gene, results from a duplication of G at nucleotide position 860, causing a translational frameshift with a predicted alternate stop codon (p.Q288Tfs*3). This alteration has been reported in multiple individuals with a personal and/or family history of cancers associated with Lynch syndrome (Guindalini RS et al. Gastroenterology. 2015 Nov;149:1446-53; Espenschied CR et al. J. Clin. Oncol. 2017 Aug;35(22):2568-2575). 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. |
| Invitae | RCV001034633 | SCV000284191 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln288Thrfs*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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 26248088). ClinVar contains an entry for this variant (Variation ID: 36579). For these reasons, this variant has been classified as Pathogenic. |
| Myriad Genetics, |
RCV003450652 | SCV004188138 | pathogenic | Lynch syndrome 1 | 2023-07-28 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Baylor Genetics | RCV003450652 | SCV004196921 | pathogenic | Lynch syndrome 1 | 2022-01-03 | criteria provided, single submitter | clinical testing |