Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001044859 | SCV001208680 | uncertain significance | Bardet-Biedl syndrome | 2022-05-27 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 519 of the BBS2 protein (p.Leu519Val). This variant is present in population databases (rs374028829, gnomAD 0.002%). 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: 842436). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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, |
RCV002505577 | SCV002817049 | uncertain significance | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2021-10-26 | criteria provided, single submitter | clinical testing |