ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2651C>T (p.Pro884Leu)

gnomAD frequency: 0.00001  dbSNP: rs1306748524
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
GeneDx RCV001546253 SCV001765744 uncertain significance not provided 2021-05-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004039272 SCV003588561 uncertain significance Cardiovascular phenotype 2021-12-02 criteria provided, single submitter clinical testing The c.2651C>T (p.P884L) alteration is located in exon 1 (coding exon 1) of the ZNF469 gene. This alteration results from a C to T substitution at nucleotide position 2651, causing the proline (P) at amino acid position 884 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.