ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) (rs372844636)

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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508413 SCV000600945 pathogenic not provided 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV000021950 SCV001416923 pathogenic Biotinidase deficiency 2019-10-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 211 of the BTD protein (p.Arg211Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs372844636, ExAC 0.01%). This variant has been observed in combination with another BTD variant in several individuals affected with biotinidase deficiency (PMID: 10400129, 26810761, 17185019, 25754625, 27329734). ClinVar contains an entry for this variant (Variation ID: 25028). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000021950 SCV000042619 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only
Counsyl RCV000021950 SCV001132344 likely pathogenic Biotinidase deficiency 2015-08-26 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.