ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.254C>A (p.Ala85Glu)

dbSNP: rs1060502507
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 RCV000459670 SCV000549920 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2020-06-07 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an SLC25A22-related disease. This sequence change replaces alanine with glutamic acid at codon 85 of the SLC25A22 protein (p.Ala85Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid.

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.