ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1490C>A (p.Ser497Tyr)

dbSNP: rs1586815479
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
Invitae RCV001044311 SCV001208102 uncertain significance Baller-Gerold syndrome 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces serine, a(n) neutral and polar amino acid, with tyrosine, a(n) neutral and polar amino acid, at codon 497 of the RECQL4 protein (p.Ser497Tyr). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 841982). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (gnomAD no frequency).

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.