Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002021838 | SCV002235865 | uncertain significance | Biotinidase deficiency | 2022-10-24 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 1450819). This variant has not been reported in the literature in individuals affected with BTD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 326 of the BTD protein (p.Glu326Gly). |
| Ambry Genetics | RCV003348686 | SCV004075056 | uncertain significance | Inborn genetic diseases | 2023-06-16 | criteria provided, single submitter | clinical testing | The c.977A>G (p.E326G) 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 977, causing the glutamic acid (E) at amino acid position 326 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |