ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1391-1G>A (rs117642173)

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 RCV000814733 SCV000955155 pathogenic Baller-Gerold syndrome 2018-10-20 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the RECQL4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs117642173, ExAC 0.02%). This variant has been observed in individuals affected with Rothmund–Thomson syndrome who also had a second pathogenic RECQL4 variant (PMID: 10678659, 28039508, 27247962, 28486640, 21143835), and it has been reported to segregate with the disease in more than one family (PMID: 10678659, 28039508). This variant is also known as a 3' splice site G→A change in the literature. ClinVar contains an entry for this variant (Variation ID: 407029). 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). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006439 SCV000026622 pathogenic Rothmund-Thomson syndrome type 2 2000-01-31 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.