Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001230623 | SCV001403107 | uncertain significance | Bardet-Biedl syndrome | 2023-08-17 | 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BBS4 protein function. ClinVar contains an entry for this variant (Variation ID: 957617). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. This variant is present in population databases (rs199831925, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 308 of the BBS4 protein (p.Tyr308Cys). |
| Fulgent Genetics, |
RCV002484258 | SCV002788993 | uncertain significance | Bardet-Biedl syndrome 4 | 2022-04-20 | criteria provided, single submitter | clinical testing |