ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=)

gnomAD frequency: 0.00031  dbSNP: rs371897217
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000324218 SCV000399337 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697756 SCV000533631 benign not provided 2019-09-11 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001697756 SCV002406903 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278455 SCV002565336 likely benign Ehlers-Danlos syndrome 2022-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328836 SCV002627379 benign Cardiovascular phenotype 2019-09-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.