Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230653 | SCV001403139 | uncertain significance | Bardet-Biedl syndrome | 2021-06-24 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 1 of the BBS2 gene. It does not directly change the encoded amino acid sequence of the BBS2 protein, but it affects a nucleotide within the consensus splice site of the intron. 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |
Prevention |
RCV003898219 | SCV004712215 | likely benign | BBS2-related condition | 2020-10-21 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001828842 | SCV002089312 | uncertain significance | Bardet-Biedl syndrome 2 | 2021-09-21 | no assertion criteria provided | clinical testing |