ClinVar Miner

Submissions for variant NM_198535.3(ZNF699):c.175+1G>A

dbSNP: rs749115647
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001267714 SCV001445966 uncertain significance Diamond-Blackfan anemia 2020-11-16 criteria provided, single submitter curation The homozygous c.175+1G>A variant in ZNF699 was identified by our study in 1 individual with Diamond-Blackfan anemia. The variant has not been previously reported in individuals with Diamond-Blackfan anemia but has been identified in 0.003% (1/30612) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs749115647). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. It is of note that loss of function of ZNF699 in an autosomal recessive disease has not yet been established based on the criteria laid out in Tayoun et al., 2018 (PMID: 30192042). Furthermore, although this gene has been reported in association with Diamond-Blackfan anemia, it currently has limited evidence for these associations. In summary, the clinical significance of the c.175+1G>A variant is uncertain.
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital RCV004692382 SCV004565354 pathogenic DEGCAGS syndrome 2024-02-01 criteria provided, single submitter clinical testing ACMG subscores: PVS1, PM2_sup, PM3_sup

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.