Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001359017 | SCV001554877 | uncertain significance | Bardet-Biedl syndrome | 2022-02-17 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 304 of the BBS1 protein (p.Val304Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1051033). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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, |
RCV001825989 | SCV002782133 | uncertain significance | Bardet-Biedl syndrome 1 | 2021-11-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001825989 | SCV002094748 | uncertain significance | Bardet-Biedl syndrome 1 | 2020-02-01 | no assertion criteria provided | clinical testing |