ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6431A>C (p.Glu2144Ala) (rs754703964)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756890 SCV000884858 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing The p.Glu2144Ala variant (rs754703964) has not been reported in the medical literature or previously identified in our laboratory, but it is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.039% in the Latino population (identified in 13 out of 33,484 chromosomes). The glutamic acid at codon 2144 is moderately conserved considering 12 species (Alamut software v2.10.0), and computational analyses predict that this variant does not affect the structure/function of the USH2A protein (SIFT: tolerated, PolyPhen2: benign, MutationTaster: polymorphism). However, based on the available information, the clinical significance of the p.Glu2144Ala variant cannot be determined with certainty.

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.