ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2418C>T (p.Ser806=) (rs770992427)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162791 SCV000213269 likely benign Hereditary cancer-predisposing syndrome 2014-10-22 criteria provided, single submitter clinical testing
Color RCV000162791 SCV000911115 likely benign Hereditary cancer-predisposing syndrome 2017-10-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000590110 SCV000230041 uncertain significance not provided 2014-10-07 criteria provided, single submitter clinical testing
GeneDx RCV000178055 SCV000513692 likely benign not specified 2017-09-07 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 RCV000590110 SCV000695814 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.2418C>T (p.Ser806Ser) variant involves the alteration of a non-conserved nucleotide causing a synonymous change that 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding. However, these predictions have yet to be confirmed by functional studies. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/120960 (1/60480), which does not exceed the estimated maximal expected allele frequency for a pathogenic MSH6 variant of 1/7037. The variant of interest has not been, to our knowledge, reported in affected individuals via publications, although multiple clinical diagnostic laboratories classified this variant as "likely benign" and "uncertain significance." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000199614 SCV000253094 likely benign Hereditary nonpolyposis colon cancer 2017-12-19 criteria provided, single submitter clinical testing

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