ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)

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 RCV002666754 SCV002972770 uncertain significance Maple syrup urine disease 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 407 of the DBT protein (p.Thr407Ala). This variant is present in population databases (rs761825178, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DBT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002649955 SCV003656577 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.1219A>G (p.T407A) alteration is located in exon 10 (coding exon 10) of the DBT gene. This alteration results from a A to G substitution at nucleotide position 1219, causing the threonine (T) at amino acid position 407 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002666754 SCV004050143 uncertain significance Maple syrup urine disease 2023-04-11 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.