ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1A>G (p.Met1Val)

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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003154575 SCV003842979 uncertain significance Fanconi anemia complementation group Q 2023-01-09 criteria provided, single submitter clinical testing The ERCC4 c.1A>G (p.Met1?) change results in a A>G substitution at the 1 position of exon 1 of the ERCC4 gene. This results in loss of the initiation codon in a gene for which loss-of-function is a known mechanism of disease, however a downstream methionine exists. This variant has a maximum subpopulation frequency of 0.0033% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/) and other start loss variants in ERCC4 are also present in the gnomAD database. To our knowledge, this variant has not been reported in individuals with Fanconi anemia or Xeroderma pigmentosum. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as 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.