ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.117G>A (p.Gly39=) (rs756673077)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491059 SCV000580236 likely benign Hereditary cancer-predisposing syndrome 2015-11-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000491059 SCV000685175 likely benign Hereditary cancer-predisposing syndrome 2015-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000611965 SCV000729572 likely benign not specified 2017-10-10 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 RCV000611965 SCV000917736 uncertain significance not specified 2018-02-09 criteria provided, single submitter clinical testing Variant summary: MSH6 c.117G>A alters a conserved nucleotide resulting in a synonymous change and 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.4e-06 in 228732 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.117G>A in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Multiple clinical diagnostic laboratories (ClinVar submissions after 2014) classify the variant as "likely benign." Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000232522 SCV000283706 likely benign Lynch syndrome 2016-09-28 criteria provided, single submitter clinical testing

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