ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile)

dbSNP: rs1453393447
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331883 SCV001524028 uncertain significance Developmental and epileptic encephalopathy, 25 2020-08-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001331883 SCV001999878 uncertain significance Developmental and epileptic encephalopathy, 25 2021-11-02 criteria provided, single submitter curation The p.Phe552Ile variant in SLC13A5 has been reported in 1 homozygous individual with developmental and epileptic encephalopathy (PMID: 31054490) and has been identified in 0.005% (1/18394) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs1453393447). Although this variant has been seen in the general population in a heterozygous state, its frequency is low enough to be consistent with a recessive carrier frequency. This variant has also been reported in ClinVar (Variation ID#: 1030354) and has been interpreted as VUS by Baylor Genetics. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Phe552Ile variant is uncertain. ACMG/AMP Criteria applied: PM3_supporting, PM2_supporting (Richards 2015).
Revvity Omics, Revvity RCV001331883 SCV003823325 uncertain significance Developmental and epileptic encephalopathy, 25 2023-06-15 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.