Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000021905 | SCV000800614 | uncertain significance | Biotinidase deficiency | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000021905 | SCV001411319 | pathogenic | Biotinidase deficiency | 2023-09-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 79 of the BTD protein (p.Arg79His). This variant is present in population databases (rs397514343, gnomAD 0.003%). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 14707518). 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: 38567). 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.Arg79 amino acid residue in BTD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10801053, 15060693, 27845546, 29359854). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Suma Genomics | RCV000021905 | SCV002543789 | pathogenic | Biotinidase deficiency | criteria provided, single submitter | clinical testing | ||
Gene |
RCV003125847 | SCV003803151 | likely pathogenic | not provided | 2022-07-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as c.236 G>A (79 R>H); This variant is associated with the following publications: (PMID: 14707518, 15060693) |
Baylor Genetics | RCV000021905 | SCV004211432 | likely pathogenic | Biotinidase deficiency | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000021905 | SCV002081545 | likely pathogenic | Biotinidase deficiency | 2020-09-09 | no assertion criteria provided | clinical testing |