ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.187T>G (p.Ser63Ala) (rs763702846)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562024 SCV000669935 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000629755 SCV000750711 uncertain significance Hereditary nonpolyposis colon cancer 2018-07-18 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 63 of the MSH6 protein (p.Ser63Ala). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and alanine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MSH6-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759848 SCV000889465 uncertain significance not provided 2018-07-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.