ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.580_584+1del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042569 SCV001206257 likely pathogenic Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2019-12-11 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 3 (c.580_584+1del) of the ERCC4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual with Xeroderma Pigmentosum-F with mild photo-sensitivity and cerebellar atrophy (PMID: 28431612). Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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.