Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV002481859 | SCV004176069 | uncertain significance | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2023-08-02 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002481859 | SCV002788889 | uncertain significance | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2022-03-22 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001037692 | SCV001201120 | uncertain significance | Bardet-Biedl syndrome | 2022-03-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 515 of the BBS2 protein (p.Gly515Ser). This variant is present in population databases (rs181107019, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 836536). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
| Institute of Human Genetics, |
RCV004818198 | SCV005073143 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing | |
| Prevention |
RCV004536068 | SCV004114396 | uncertain significance | BBS2-related disorder | 2023-12-13 | no assertion criteria provided | clinical testing | The BBS2 c.1543G>A variant is predicted to result in the amino acid substitution p.Gly515Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.019% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
| Natera, |
RCV001273908 | SCV001457502 | uncertain significance | Bardet-Biedl syndrome 2 | 2020-01-24 | no assertion criteria provided | clinical testing |