ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu)

gnomAD frequency: 0.00083  dbSNP: rs61734338
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
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445482 SCV000536952 uncertain significance Monogenic diabetes 2017-10-13 criteria provided, single submitter research ACMG criteria: PP3 (2 predictors), BP4 (9 predictors)=VUS
Invitae RCV000907752 SCV001052477 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000907752 SCV001819855 likely benign not provided 2021-05-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114575 SCV003800281 uncertain significance Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2022-03-01 criteria provided, single submitter clinical testing The SLC19A2 c.824G>T; p.Arg275Leu variant (rs61734338), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 393365). This variant is found in the African/African-American population with an allele frequency of 0.34% (84/24956 alleles, including a single homozygote) in the Genome Aggregation Database. The arginine at codon 275 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.228). While the high population frequency suggests that this is likely a benign variant, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

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.