ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1411del (p.Gln471fs)

dbSNP: rs2130706345
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
Illumina Laboratory Services, Illumina RCV001563659 SCV001786647 pathogenic RECQL4-related spectrum disorders 2021-02-04 criteria provided, single submitter clinical testing The RECQL4 c.1411delC (p.Gln471ArgfsTer87) variant results in a frameshift and is predicted to result in premature termination or absence of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Gln471ArgfsTer87 variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the available evidence and application of the ACMG criteria, the p.Gln471ArgfsTer87 variant is classified as pathogenic for RECQL4-related spectrum disorders.
Labcorp Genetics (formerly Invitae), Labcorp RCV002570744 SCV003462568 pathogenic Baller-Gerold syndrome 2022-12-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1199231). 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). This sequence change creates a premature translational stop signal (p.Gln471Argfs*87) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869).

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.