ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.211T>C (p.Tyr71His) (rs145315496)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000120818 SCV000594578 uncertain significance not specified 2017-04-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728799 SCV000856414 uncertain significance not provided 2017-08-14 criteria provided, single submitter clinical testing
Invitae RCV001209805 SCV001381255 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2019-05-14 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 71 of the ERCC4 protein (p.Tyr71His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs145315496, ExAC 0.1%). This variant has not been reported in the literature in individuals with ERCC4-related disease. ClinVar contains an entry for this variant (Variation ID: 134145). 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.
ITMI RCV000120818 SCV000084983 not provided not specified 2013-09-19 no assertion provided reference population

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.