Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001240854 | SCV001413831 | uncertain significance | Bardet-Biedl syndrome | 2022-10-13 | 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 251 of the BBS1 protein (p.Leu251Val). 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: 966229). 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 BBS1 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. |
Baylor Genetics | RCV001329987 | SCV001521569 | uncertain significance | Bardet-Biedl syndrome 1 | 2019-07-30 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV001329987 | SCV002816137 | uncertain significance | Bardet-Biedl syndrome 1 | 2021-12-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001329987 | SCV002094742 | uncertain significance | Bardet-Biedl syndrome 1 | 2020-03-26 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004743354 | SCV005348660 | uncertain significance | BBS1-related disorder | 2024-08-30 | no assertion criteria provided | clinical testing | The BBS1 c.751C>G variant is predicted to result in the amino acid substitution p.Leu251Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0028% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |