Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039988 | SCV001203540 | uncertain significance | Bardet-Biedl syndrome | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 136 of the BBS1 protein (p.Gln136Arg). This variant is present in population databases (rs144833282, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 838441). 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 BBS1 protein function. 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, |
RCV001836072 | SCV002816703 | uncertain significance | Bardet-Biedl syndrome 1 | 2021-12-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928673 | SCV004742835 | uncertain significance | BBS1-related condition | 2023-11-29 | criteria provided, single submitter | clinical testing | The BBS1 c.407A>G variant is predicted to result in the amino acid substitution p.Gln136Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.077% of alleles in individuals of Ashkenazi Jewish descent in gnomAD, which is likely too frequent for a primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001836072 | SCV002094724 | uncertain significance | Bardet-Biedl syndrome 1 | 2020-03-24 | no assertion criteria provided | clinical testing |