ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.34dup (p.Leu12fs)

gnomAD frequency: 0.00001  dbSNP: rs778176957
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 RCV002461704 SCV002756649 likely pathogenic not provided 2022-11-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004990778 SCV005581163 pathogenic Cardiovascular phenotype 2024-12-03 criteria provided, single submitter clinical testing The c.34dupC pathogenic mutation, located in coding exon 1 of the FKBP14 gene, results from a duplication of C at nucleotide position 34, causing a translational frameshift with a predicted alternate stop codon (p.L12Pfs*13). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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.