Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Department of Laboratory Medicine, |
RCV000664317 | SCV000788253 | likely pathogenic | Lynch syndrome | 2018-02-07 | criteria provided, single submitter | clinical testing | The MSH2 p.V611E variant has not been previously reported, to our knowledge, and occurs at a position that is evolutionarily conserved. Testing performed on tumor tissue of a patient with germline MSH2 p.V611E supports that this variant is pathogenic. Specifically, in the patient's tumor the constitutional MSH2 variant was seen with a single somatic pathogenic mutation at heterozygous frequency in MSH2, without evidence loss of heterozygosity in MSH2. |