ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)

dbSNP: rs397514380
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185805 SCV000238747 pathogenic not provided 2016-01-19 criteria provided, single submitter clinical testing The D228Y missense mutation in the BTD gene has been reported previously in association with biotinidase deficiency (Swango et al., 1998; ARUP BTD mutation database). Furthermore, another missense mutation at this position (D228G) and missense mutations in nearby residues (D222G, T234I) have been reported in association with biotinidase deficiency.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000185805 SCV002046648 likely pathogenic not provided 2021-02-18 criteria provided, single submitter clinical testing The variant has been reported to be associated with partial biotinidase deficiency (PMID: 9654207 (1998)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is disease causing and damaging. Based on the available information, this variant is classified as likely pathogenic.
Baylor Genetics RCV003473119 SCV004211405 likely pathogenic Biotinidase deficiency 2024-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003473119 SCV004373059 pathogenic Biotinidase deficiency 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 228 of the BTD protein (p.Asp228Tyr). This variant is present in population databases (rs397514380, gnomAD 0.006%). This missense change has been observed in individual(s) with partial biotinidase deficiency (PMID: 9654207; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 25035). 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. This variant disrupts the p.Asp228 amino acid residue in BTD. Other variant(s) that disrupt this residue have been observed in individuals with BTD-related conditions (PMID: 24797656; Invitae), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Eurofins Ntd Llc (ga) RCV000185805 SCV000855891 uncertain significance not provided 2017-08-02 flagged submission 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.