ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.546G>T (p.Leu182Phe)

gnomAD frequency: 0.00013  dbSNP: rs144763058
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001248391 SCV001421875 uncertain significance Ornithine aminotransferase deficiency 2024-12-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 182 of the OAT protein (p.Leu182Phe). This variant is present in population databases (rs144763058, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with OAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 972371). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt OAT protein function with a negative predictive value of 80%. 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 RCV004960655 SCV005462586 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The c.546G>T (p.L182F) alteration is located in exon 5 (coding exon 4) of the OAT gene. This alteration results from a G to T substitution at nucleotide position 546, causing the leucine (L) at amino acid position 182 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001248391 SCV001467297 uncertain significance Ornithine aminotransferase deficiency 2020-04-11 no assertion criteria provided 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.