Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000735942 | SCV002150226 | uncertain significance | Bardet-Biedl syndrome | 2022-11-01 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs370916293, gnomAD 0.0009%). This sequence change falls in intron 3 of the BBS9 gene. It does not directly change the encoded amino acid sequence of the BBS9 protein. It affects a nucleotide within the consensus splice site. This variant has been observed in individuals with clinical features of Bardet-Biedl syndrome (PMID: 30614526; Invitae). 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. Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 585195). |
| Laboratory of Medical Genetics |
RCV000735942 | SCV000839583 | pathogenic | Bardet-Biedl syndrome | 2018-09-15 | no assertion criteria provided | provider interpretation |