ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)

dbSNP: rs374141881
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000032020 SCV000630321 uncertain significance Biotinidase deficiency 2023-12-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 413 of the BTD protein (p.Gly413Ser). This variant is present in population databases (rs374141881, gnomAD 0.003%). This missense change has been observed in individual(s) with partial biotinidase deficiency (PMID: 25144890). ClinVar contains an entry for this variant (Variation ID: 38577). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BTD protein function with a positive predictive value of 95%. 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.
Counsyl RCV000032020 SCV000800639 uncertain significance Biotinidase deficiency 2017-12-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480039 SCV004226053 uncertain significance not provided 2021-12-22 criteria provided, single submitter clinical testing PP3, PM2
Natera, Inc. RCV000032020 SCV001461223 uncertain significance Biotinidase deficiency 2020-09-16 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.