Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383660 | SCV001582880 | pathogenic | Bardet-Biedl syndrome | 2020-06-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly146Valfs*55) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV002307740 | SCV002604596 | likely pathogenic | Bardet-Biedl syndrome 2 | 2022-04-05 | criteria provided, single submitter | clinical testing | NM_031885.3(BBS2):c.437delG(G146Vfs*55) is expected to be pathogenic in the context of Bardet-Biedl syndrome, BBS2-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in BBS2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |