ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) (rs181396238)

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
Research and Development, ARUP Laboratories RCV000022034 SCV000042709 pathogenic Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Enzyme activity @ 2.4 U/L with a paired control in the normal range. Seen with c.755A>G,p.D252G.
Counsyl RCV000022034 SCV000800692 uncertain significance Biotinidase deficiency 2018-04-12 criteria provided, single submitter clinical testing
Invitae RCV000022034 SCV000963906 uncertain significance Biotinidase deficiency 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 478 of the BTD protein (p.Ala478Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs181396238, ExAC 0.03%). This variant has been observed in combination with another BTD variant in an individual affected with profound biotinidase deficiency (PMID: 26810761). ClinVar contains an entry for this variant (Variation ID: 25108). 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: "Probably Damaging"; 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.

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.