ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser)

dbSNP: rs993147176
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038735 SCV001202223 uncertain significance Baller-Gerold syndrome 2023-08-17 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RECQL4 protein function. ClinVar contains an entry for this variant (Variation ID: 837409). 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 replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 657 of the RECQL4 protein (p.Ala657Ser).
Ambry Genetics RCV002551430 SCV003676115 uncertain significance Inborn genetic diseases 2021-09-22 criteria provided, single submitter clinical testing The c.1969G>T (p.A657S) alteration is located in exon 12 (coding exon 12) of the RECQL4 gene. This alteration results from a G to T substitution at nucleotide position 1969, causing the alanine (A) at amino acid position 657 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV001535478 SCV001749409 not provided Baller-Gerold syndrome; Rapadilino syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-15-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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.