ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del)

dbSNP: rs886052397
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
Illumina Laboratory Services, Illumina RCV000308716 SCV000399311 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436173 SCV002751946 uncertain significance Cardiovascular phenotype 2020-08-26 criteria provided, single submitter clinical testing The c.2951_2953delACG variant (also known as p.D984del) is located in coding exon 1 of the ZNF469 gene. This variant results from an in-frame ACG deletion at nucleotide positions 2951 to 2953. This results in the in-frame deletion of an aspartic acid at codon 984. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002522895 SCV002959682 uncertain significance not provided 2022-08-06 criteria provided, single submitter clinical testing This variant, c.2951_2953del, results in the deletion of 1 amino acid(s) of the ZNF469 protein (p.Asp984del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZNF469-related conditions. 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.

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.