ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1290G>A (p.Gly430=)

dbSNP: rs1558661242
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Total submissions: 3
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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 RCV000758621 SCV000887378 uncertain significance Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MSH6 NM_000179.2:c.1290G>A has a 14.1% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.16 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MSH6 locus. See Shirts et al 2018, PMID 29887214.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194364 SCV001363852 likely benign not specified 2019-09-05 criteria provided, single submitter clinical testing
Invitae RCV002533819 SCV003202379 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-06-01 criteria provided, single submitter clinical testing

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