ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter) (rs137853229)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624444 SCV000742050 pathogenic Inborn genetic diseases 2016-12-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000006435 SCV000803871 pathogenic Rothmund-Thomson syndrome 2014-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763179 SCV000893778 pathogenic Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000464774 SCV000545927 pathogenic Baller-Gerold syndrome 2018-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln757*) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs137853229, ExAC 0.03%). This particular variant has been reported in the literature in the homozygous or compound heterozygous state in multiple individuals affected with Rothmund-Thomson syndrome (PMID: 10319867, 25120469, 18716613, 12734318, 24635570, 21418107, 27247962) and in an individual affected with RAPADILINO syndrome (PMID: 18716613). ClinVar contains an entry for this variant (Variation ID: 6063). 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 RCV000006435 SCV000026618 pathogenic Rothmund-Thomson syndrome 2009-02-01 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.