Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000995705 | SCV001150024 | pathogenic | Bardet-Biedl syndrome 1 | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000995705 | SCV001521570 | uncertain significance | Bardet-Biedl syndrome 1 | 2020-01-20 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV000020905 | SCV002258043 | uncertain significance | Bardet-Biedl syndrome | 2021-04-21 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 9 of the BBS1 gene. It does not directly change the encoded amino acid sequence of the BBS1 protein. It affects a nucleotide within the consensus splice site of the intron. 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. 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. This variant has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 12677556). This variant is also known as IVS9-3C>G. ClinVar contains an entry for this variant (Variation ID: 21707). This variant is present in population databases (rs113994179, ExAC 0.006%). |
Gene |
RCV000020905 | SCV000041507 | pathologic | Bardet-Biedl syndrome | 2009-10-13 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |