ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.65_75+2delinsCTGG

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
Ambry Genetics RCV002364144 SCV002659269 pathogenic Diamond-Blackfan anemia 2020-10-21 criteria provided, single submitter clinical testing The c.65_c.75+2del13insCTGG variant results from a deletion of 13 nucleotides and insertion of 4 nucleotides between positions 65 and 75+2 and involves the canonical splice donor site after coding exon 1 of the RPS7 gene. The canonical splice donor site is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native donor splice site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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.