ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.800G>A (p.Arg267His)

dbSNP: rs143479220
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001863072 SCV002197363 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-09-02 criteria provided, single submitter clinical testing This variant is present in population databases (rs143479220, ExAC 0.01%). This sequence change replaces arginine with histidine at codon 267 of the ERCC4 protein (p.Arg267His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 24027083). 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 929557).
Leiden Open Variation Database RCV001194779 SCV001364564 uncertain significance not provided 2014-10-06 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Ana Osorio.

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.