ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn)

gnomAD frequency: 0.00001  dbSNP: rs727503724
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152603 SCV000201898 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Lys2164Asn vari ant in USH2A has not been previously reported in individuals with hearing loss a nd was absent from large population studies. Lysine (Lys) at position 2164 is n ot conserved in mammals or evolutionarily distant species and two species (pika and mallard duck) carry an asparagine (asn), raising the possibility that this c hange may be tolerated. Additional computational prediction tools and conservati on analyses do not provide strong support for or against an impact to the protei n. In summary, while the clinical significance of the Lys2164Asn variant is unce rtain, these data suggest that is more likely to be benign.
Counsyl RCV000666186 SCV000790436 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-03-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453129 SCV004181660 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826816 SCV004181661 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826816 SCV002090886 uncertain significance Usher syndrome type 2A 2020-02-21 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.