ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.562C>G (p.Leu188Val)

gnomAD frequency: 0.00026  dbSNP: rs146949876
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
Eurofins Ntd Llc (ga) RCV000732174 SCV000860089 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000800842 SCV000940581 likely benign Biotin-responsive basal ganglia disease 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000732174 SCV001765451 uncertain significance not provided 2024-09-20 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004027031 SCV004949509 uncertain significance Inborn genetic diseases 2021-06-08 criteria provided, single submitter clinical testing The c.562C>G (p.L188V) alteration is located in exon 3 (coding exon 2) of the SLC19A3 gene. This alteration results from a C to G substitution at nucleotide position 562, causing the leucine (L) at amino acid position 188 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.