Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001966412 | SCV002248882 | uncertain significance | Bardet-Biedl syndrome | 2024-02-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 679 of the BBS9 protein (p.Arg679Gln). This variant is present in population databases (rs768958916, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS9-related conditions. ClinVar contains an entry for this variant (Variation ID: 1467511). 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 not expected to disrupt BBS9 protein function with a negative predictive value of 80%. 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. |
| Fulgent Genetics, |
RCV005032037 | SCV005666462 | uncertain significance | Bardet-Biedl syndrome 9 | 2024-04-09 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004746551 | SCV005363757 | uncertain significance | BBS9-related disorder | 2024-04-05 | no assertion criteria provided | clinical testing | The BBS9 c.2036G>A variant is predicted to result in the amino acid substitution p.Arg679Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |