Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001047648 | SCV001211618 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-04-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant has been observed in a family with suspected Lynch syndrome (PMID: 18566915). This variant is also known as c.2351delT, p.Phe783fs in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His785Metfs*27) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. |
| Mendelics | RCV002249654 | SCV002517636 | pathogenic | Lynch syndrome 1 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002445249 | SCV002734447 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-02-11 | criteria provided, single submitter | clinical testing | The c.2352delT pathogenic mutation, located in coding exon 14 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 2352, causing a translational frameshift with a predicted alternate stop codon (p.H785Mfs*27). 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. |