ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu)

gnomAD frequency: 0.00001  dbSNP: rs201263733
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178967 SCV000231151 uncertain significance not provided 2014-08-21 criteria provided, single submitter clinical testing
Invitae RCV003765101 SCV000763160 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-06-20 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 197833). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is present in population databases (rs201263733, gnomAD 0.05%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 306 of the EFHC1 protein (p.Lys306Glu).

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.