ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3056-2A>C (rs786200889)

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
Invitae RCV000006448 SCV000959135 likely pathogenic Baller-Gerold syndrome 2018-11-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 of the RECQL4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in an individual affected with Baller-Gerold syndrome (PMID: 15964893). This variant is also known as IVS17-2A>C in the literature. ClinVar contains an entry for this variant (Variation ID: 6075). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000006448 SCV000026631 pathogenic Baller-Gerold syndrome 2006-02-01 no assertion criteria provided literature only

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.