Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000409451 | SCV000486642 | likely pathogenic | Bardet-Biedl syndrome 1 | 2016-07-18 | criteria provided, single submitter | clinical testing | |
| Department of Medical Genetics, |
RCV000409451 | SCV000930626 | likely pathogenic | Bardet-Biedl syndrome 1 | criteria provided, single submitter | clinical testing | Analysis of the exome sequencing data showed a novel homozygous sequence variant in BBS1 gene. This variant is classified as likely pathogenic which shows strong evidence of pathogenicity according to ACMG guidelines (Richards et al., 2015). Sanger sequencing confirmed the variation in proband and parents were heterozygous for the same variation. | |
| Labcorp Genetics |
RCV001377426 | SCV001574757 | pathogenic | Bardet-Biedl syndrome | 2022-02-05 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 1 of the BBS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255). This variant is present in population databases (rs764245266, gnomAD 0.01%). Disruption of this splice site has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 19797195). ClinVar contains an entry for this variant (Variation ID: 371141). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV000409451 | SCV004217376 | likely pathogenic | Bardet-Biedl syndrome 1 | 2023-07-20 | criteria provided, single submitter | clinical testing | |
| Neuberg Centre For Genomic Medicine, |
RCV000409451 | SCV005374844 | likely pathogenic | Bardet-Biedl syndrome 1 | criteria provided, single submitter | clinical testing | The observed invariant splice acceptor c.48-2A>C variant in BBS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.48-2A>C variant is present with allele frequency of 0.0008% in gnomAD Exomes. This variant has been submitted to the ClinVar database as Pathogenic/ Likely Pathogenic. Loss of function variants in BBS1 gene have been previously reported to be disease causing (Harville et al., 2010). However, additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Likely Pathogenic. |