Total submissions: 7
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 | |
Labcorp Genetics |
RCV000021950 | SCV001416923 | pathogenic | Biotinidase deficiency | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 211 of the BTD protein (p.Arg211Cys). This variant is present in population databases (rs372844636, gnomAD 0.005%). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 10400129, 17185019, 25754625, 26810761, 27329734). ClinVar contains an entry for this variant (Variation ID: 25028). 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%. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000021950 | SCV002797916 | pathogenic | Biotinidase deficiency | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000021950 | SCV004211402 | pathogenic | Biotinidase deficiency | 2024-03-29 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000021950 | SCV004807213 | uncertain significance | Biotinidase deficiency | 2024-03-26 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000021950 | SCV001132344 | likely pathogenic | Biotinidase deficiency | 2015-08-26 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000021950 | SCV002081557 | pathogenic | Biotinidase deficiency | 2020-04-14 | no assertion criteria provided | clinical testing |