ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.543+4del

gnomAD frequency: 0.00001  dbSNP: rs527236039
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 RCV001244262 SCV001417470 pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the ERCC6 gene. It does not directly change the encoded amino acid sequence of the ERCC6 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs527236039, gnomAD 0.0009%). This variant has been observed in individuals with Cockayne syndrome (PMID: 25251875, 29572252). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 143186). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects ERCC6 function (PMID: 25251875). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health RCV000132720 SCV000187649 pathogenic Cockayne syndrome type 2 no assertion criteria provided not provided Converted during submission to Pathogenic.

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.