ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1809G>A (p.Lys603=)

gnomAD frequency: 0.00001  dbSNP: rs876660790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214389 SCV000278484 likely benign Hereditary cancer-predisposing syndrome 2015-09-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
University of Washington Department of Laboratory Medicine, University of Washington RCV000758623 SCV000887380 benign Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MSH6 NM_000179.2:c.1809G>A has a 0.9% 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.
Invitae RCV001479148 SCV001683441 likely benign Hereditary nonpolyposis colorectal neoplasms 2018-07-03 criteria provided, single submitter clinical testing

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