ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) (rs1057518910)

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
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415186 SCV000492888 likely pathogenic Cockayne syndrome 2015-06-22 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196299 SCV001366885 likely pathogenic Rare genetic syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. This variant was detected in heterozygous state.
Invitae RCV001246234 SCV001419575 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 530 of the ERCC6 protein (p.Leu530Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 374116). 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 disruptive, 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.

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.