ClinVar Miner

Submissions for variant NM_130837.2(OPA1):c.1744A>C (p.Lys582Gln) (rs766935532)

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 RCV000756449 SCV000884268 uncertain significance not provided 2018-02-08 criteria provided, single submitter clinical testing The OPA1: c.1744A>C; p.Lys582Gln variant (rs766935532) has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is It is also absent from population databases such as 1000 Genomes, the NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD) browser. The lysine at codon 582 is weakly conserved considering 12 species (Alamut software v2.10), and computational analyses suggest this variant does not have a significant effect on OPA1 protein structure/function (SIFT: tolerated and PolyPhen2: benign). However, based on the available information, the clinical significance of the p.Lys582Gln 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.