ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp)

gnomAD frequency: 0.00004  dbSNP: rs139884931
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
Baylor Genetics RCV001294172 SCV001483001 uncertain significance Trichothiodystrophy 1, photosensitive 2020-08-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863180 SCV002259814 uncertain significance not provided 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 185 of the ERCC2 protein (p.Arg185Trp). This variant is present in population databases (rs139884931, gnomAD 0.02%). This missense change has been observed in individual(s) with stomach cancer (PMID: 29625052). ClinVar contains an entry for this variant (Variation ID: 998351). 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: "Deleterious"; PolyPhen-2: "Possibly 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.
Sema4, Sema4 RCV002258182 SCV002531604 uncertain significance Xeroderma pigmentosum 2021-11-11 criteria provided, single submitter curation

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.