ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu)

gnomAD frequency: 0.00009  dbSNP: rs368830992
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001043126 SCV001206842 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-07-06 criteria provided, single submitter clinical testing This variant is present in population databases (rs368830992, gnomAD 0.008%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ERCC4 protein function. ClinVar contains an entry for this variant (Variation ID: 840996). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 540 of the ERCC4 protein (p.Ser540Leu).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238281 SCV002009709 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259070 SCV002537730 uncertain significance Xeroderma pigmentosum 2021-08-17 criteria provided, single submitter curation
GeneDx RCV003238281 SCV005331812 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.