ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1952_1953del (p.Glu651fs) (rs1553242326)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620923 SCV000737259 uncertain significance Cardiovascular phenotype 2017-04-17 criteria provided, single submitter clinical testing The c.1952_1953delAG variant, located in coding exon 12 of the NEXN gene, results from a deletion of two nucleotides at nucleotide positions 1952 to 1953, causing a translational frameshift with a predicted alternate stop codon (p.E651Vfs*4). This alteration is expected to result in loss of function by premature protein truncation, with loss of the C-terminal 24 amino acids. However, the mechanism of disease for NEXN<span style="color:rgb(255, 0, 0)"> mutations has not been clearly established, and the impact of this truncation on protein function is unclear. Since supporting evidence is limited at this time, 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.