ClinVar Miner

Submissions for variant NM_032193.3(RNASEH2C):c.175C>A (p.Leu59Ile) (rs764887792)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788249 SCV000927300 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing
Invitae RCV001043894 SCV001207663 uncertain significance Aicardi Goutieres syndrome 3 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 59 of the RNASEH2C protein (p.Leu59Ile). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is present in population databases (rs764887792, ExAC 0.005%). This variant has not been reported in the literature in individuals with RNASEH2C-related conditions. ClinVar contains an entry for this variant (Variation ID: 636423). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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.