Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243382 | SCV001416536 | uncertain significance | Bardet-Biedl syndrome | 2022-09-28 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 321 of the BBS2 protein (p.Thr321Met). This variant is present in population databases (rs758548498, gnomAD 0.007%). 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: 968281). 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 BBS2 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, |
RCV002484343 | SCV002781071 | uncertain significance | Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003365284 | SCV004073482 | likely benign | Inborn genetic diseases | 2023-07-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV001829026 | SCV002089285 | uncertain significance | Bardet-Biedl syndrome 2 | 2020-02-21 | no assertion criteria provided | clinical testing |