Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001063534 | SCV001228383 | uncertain significance | Bardet-Biedl syndrome | 2022-11-22 | 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 TTC8 protein function. ClinVar contains an entry for this variant (Variation ID: 857791). This variant has not been reported in the literature in individuals affected with TTC8-related conditions. This variant is present in population databases (rs568563702, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 320 of the TTC8 protein (p.Ala320Thr). |
| Fulgent Genetics, |
RCV002479374 | SCV002786605 | uncertain significance | Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 | 2022-03-05 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003372970 | SCV004063034 | uncertain significance | Inborn genetic diseases | 2023-08-02 | criteria provided, single submitter | clinical testing | The c.958G>A (p.A320T) alteration is located in exon 10 (coding exon 10) of the TTC8 gene. This alteration results from a G to A substitution at nucleotide position 958, causing the alanine (A) at amino acid position 320 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |