ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.-19+2T>A

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003507711 SCV004327939 pathogenic Diamond-Blackfan anemia 8 2023-12-09 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the RPS7 gene. It does not change the encoded amino acid sequence of the RPS7 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Diamond-Blackfan anemia (PMID: 25946618). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been 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.