Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001361808 | SCV001557798 | uncertain significance | Bardet-Biedl syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 461 of the BBS2 protein (p.Val461Met). This variant is present in population databases (rs377000980, gnomAD 0.01%). This missense change has been observed in individual(s) with Bardet–Biedl syndrome (PMID: 33138063). ClinVar contains an entry for this variant (Variation ID: 1053461). 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: "Deleterious"; 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, |
RCV002476650 | SCV002781715 | uncertain significance | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2021-07-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001831222 | SCV002089277 | uncertain significance | Bardet-Biedl syndrome 2 | 2020-03-11 | no assertion criteria provided | clinical testing |