ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.701_704del (p.Asp234fs)

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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268153 SCV001446844 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166597 SCV003896335 pathogenic Inborn genetic diseases 2023-03-08 criteria provided, single submitter clinical testing The c.701_704delACAG (p.D234Vfs*54) alteration, located in exon 7 (coding exon 7) of the ZMYND11 gene, consists of a deletion of 4 nucleotides from position 701 to 704, causing a translational frameshift with a predicted alternate stop codon after 54 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as 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.