ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1806C>G (p.Tyr602Ter)

dbSNP: rs2063939905
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526615 SCV001737045 pathogenic Intellectual disability criteria provided, single submitter clinical testing
Ambry Genetics RCV003382623 SCV004088482 pathogenic Inborn genetic diseases 2023-09-12 criteria provided, single submitter clinical testing The c.1806C>G (p.Y602*) alteration, located in exon 16 (coding exon 16) of the DDX3X gene, consists of a C to G substitution at nucleotide position 1806. This changes the amino acid from a tyrosine (Y) to a stop codon at amino acid position 602. 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.