ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.464G>C (p.Gly155Ala)

gnomAD frequency: 0.00016  dbSNP: rs200992080
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731853 SCV000242946 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing
Invitae RCV000692238 SCV000820050 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 155 of the SLC25A22 protein (p.Gly155Ala). This variant is present in population databases (rs200992080, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SLC25A22-related conditions. ClinVar contains an entry for this variant (Variation ID: 207152). 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 alanine 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.
Ambry Genetics RCV002314762 SCV000849341 uncertain significance Inborn genetic diseases 2019-12-06 criteria provided, single submitter clinical testing The p.G155A variant (also known as c.464G>C), located in coding exon 6 of the SLC25A22 gene, results from a G to C substitution at nucleotide position 464. The glycine at codon 155 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Eurofins Ntd Llc (ga) RCV000731853 SCV000859709 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing

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.