ClinVar Miner

Submissions for variant NM_031475.3(ESPN):c.2150A>G (p.Asn717Ser)

gnomAD frequency: 0.00003  dbSNP: rs921702586
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626973 SCV000747676 uncertain significance Sensorineural hearing loss disorder 2017-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352944 SCV004077504 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.2150A>G (p.N717S) alteration is located in exon 10 (coding exon 10) of the ESPN gene. This alteration results from a A to G substitution at nucleotide position 2150, causing the asparagine (N) at amino acid position 717 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724104 SCV001954621 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724104 SCV001969205 uncertain significance not provided no assertion criteria provided clinical testing

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.