ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) (rs397507175)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724643 SCV000230003 likely pathogenic not provided 2015-03-17 criteria provided, single submitter clinical testing
Invitae RCV000021959 SCV000817625 uncertain significance Biotinidase deficiency 2018-04-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 245 of the BTD protein (p.Cys245Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs397507175, ExAC 0.003%). This variant has been reported as in combination with another BTD variant in individuals affected with biotinidase deficiency (PMID: 15776412). ClinVar contains an entry for this variant (Variation ID: 38281). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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.
Research and Development, ARUP Laboratories RCV000021959 SCV000042628 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only
Counsyl RCV000021959 SCV000797130 likely pathogenic Biotinidase deficiency 2019-03-02 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.