ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)

gnomAD frequency: 0.00001  dbSNP: rs397514366
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
Counsyl RCV000021937 SCV000800623 uncertain significance Biotinidase deficiency 2017-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000021937 SCV001201601 uncertain significance Biotinidase deficiency 2022-01-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 172 of the BTD protein (p.Asn172Ser). This variant is present in population databases (rs397514366, gnomAD 0.0009%). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 11313766). ClinVar contains an entry for this variant (Variation ID: 25017). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002513164 SCV003602268 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.515A>G (p.N172S) alteration is located in exon 4 (coding exon 4) of the BTD gene. This alteration results from a A to G substitution at nucleotide position 515, causing the asparagine (N) at amino acid position 172 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000021937 SCV002081553 uncertain significance Biotinidase deficiency 2021-01-29 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.