ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly)

dbSNP: rs375297971
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470955 SCV000545982 likely benign Baller-Gerold syndrome 2025-02-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766001 SCV000897433 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001847740 SCV002104340 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in healthy individuals undergoing whole genome sequencing (Bodian et al., 2014); This variant is associated with the following publications: (PMID: 24728327)
Sema4, Sema4 RCV002255300 SCV002528313 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-17 criteria provided, single submitter curation
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004786383 SCV005402293 uncertain significance Rothmund-Thomson syndrome type 2 2024-05-01 criteria provided, single submitter clinical testing The RECQL4 c.3172C>G (p.Arg1058Gly) missense change has a maximum subpopulation frequency of 0.19% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In silico tools predict a deleterious effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with RECQL4-associated conditions. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
ITMI RCV000121945 SCV000086152 not provided not specified 2013-09-19 no assertion provided reference population

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.