ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) (rs1800938)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115439 SCV000212886 likely benign Hereditary cancer-predisposing syndrome 2017-11-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Other data supporting benign classification
Color RCV000115439 SCV000902751 benign Hereditary cancer-predisposing syndrome 2016-07-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586585 SCV000702270 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000200987 SCV000149348 likely benign not specified 2017-11-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000586585 SCV000695924 likely benign not provided 2016-10-28 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.660A>C (p.Glu220Asp) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a benign outcome for this variant. This variant was found in 22/119960 control chromosomes, predominantly observed in the South Asian subpopulation at a frequency of 0.000366 (6/16394). This frequency is about 3 times the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. The variant has been reported in affected individuals and controls in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases, including InSIGHT, classified this variant as likely benign. Taken together, this variant is classified as likely benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075020 SCV000108241 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research MAF 1% in a specific population
Invitae RCV000524212 SCV000153983 likely benign Hereditary nonpolyposis colon cancer 2017-12-20 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000200987 SCV000257305 uncertain significance not specified no assertion criteria provided research

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