ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3353G>A (p.Gly1118Asp)

dbSNP: rs1276726206
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 RCV001245701 SCV001419004 uncertain significance Baller-Gerold syndrome 2023-11-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1118 of the RECQL4 protein (p.Gly1118Asp). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 970178). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genetic Services Laboratory, University of Chicago RCV001819949 SCV002071858 uncertain significance not specified 2021-09-17 criteria provided, single submitter clinical testing DNA sequence analysis of the RECQL4 gene demonstrated a sequence change, c.3353G>A, in exon 19 that results in an amino acid change, p.Gly1118Asp. This sequence change has been described in the gnomAD database in a single heterozygous individual which corresponds to population frequency of 0.00041% (dbSNP rs1276726206). The p.Gly1118Asp change affects a moderately conserved amino acid residue located in a domain of the RECQL4 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gly1118Asp substitution. This sequence change does not appear to have been previously described in individuals with RECQL4-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Gly1118Asp change remains unknown at this time.

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.