ClinVar Miner

Submissions for variant NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter) (rs147837686)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174897 SCV001338321 pathogenic Neutral 1 amino acid transport defect 2020-02-20 criteria provided, single submitter clinical testing Variant summary: SLC6A19 c.532C>T (p.Arg178X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 7.5e-05 in 251854 control chromosomes (gnomAD). c.532C>T has been reported in the literature in individuals affected with Hartnup disorder (e.g. Azmanov_2008, Kuster_2018). These data indicate that the variant may be associated with disease. In functional analysis using Xenopus leavis oocytes, the variant was found to have impaired leucine uptake (Azmanov_2008). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics,Fulgent Genetics RCV001536072 SCV001752769 pathogenic Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 2021-06-30 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.