Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192942 | SCV001361416 | likely pathogenic | Bardet-Biedl syndrome | 2019-06-14 | criteria provided, single submitter | clinical testing | Variant summary: BBS2 c.1206dupA (p.Arg403ThrfsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251492 control chromosomes (gnomAD). c.1206dupA has been reported in the literature in a homozygous individual affected with Bardet-Biedl Syndrome (Nishimura_2001). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Invitae | RCV001192942 | SCV003443555 | pathogenic | Bardet-Biedl syndrome | 2023-10-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg403Thrfs*6) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with BBS2-related conditions (PMID: 11285252). This variant is also known as 1206insA. ClinVar contains an entry for this variant (Variation ID: 928684). 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 | RCV003462668 | SCV004213992 | pathogenic | Bardet-Biedl syndrome 2 | 2024-03-10 | criteria provided, single submitter | clinical testing |