ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1832T>A (p.Val611Glu)

dbSNP: rs1553368590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington 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.

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