ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.1990A>C (p.Lys664Gln)

gnomAD frequency: 0.00001  dbSNP: rs1285036282
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002026587 SCV002299563 uncertain significance Emery-Dreifuss muscular dystrophy 2021-09-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SUN2-related conditions. This sequence change replaces lysine with glutamine at codon 664 of the SUN2 protein (p.Lys664Gln). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.