Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000412002 | SCV000485699 | likely pathogenic | Bardet-Biedl syndrome 1 | 2016-02-02 | criteria provided, single submitter | clinical testing | |
| Blueprint Genetics | RCV001073741 | SCV001239301 | pathogenic | Retinal dystrophy | 2017-10-08 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001237365 | SCV001410122 | pathogenic | Bardet-Biedl syndrome | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu75Glyfs*23) in the BBS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255, 21520335, 27032803). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 12677556, 21052717). This variant is also known as L75fsX98. ClinVar contains an entry for this variant (Variation ID: 370389). 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. |
| Fulgent Genetics, |
RCV000412002 | SCV001752480 | pathogenic | Bardet-Biedl syndrome 1 | 2021-06-30 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001237365 | SCV002547571 | pathogenic | Bardet-Biedl syndrome | 2022-05-25 | criteria provided, single submitter | clinical testing | Variant summary: BBS1 c.223_224delCT (p.Leu75GlyfsX23) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251146 control chromosomes (gnomAD). c.223_224delCT has been reported in the literature in individuals affected with Bardet-Biedl Syndrome (Beales_2003, Janssen_2011, Stone_2017). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five ClinVar submitters (evaluation after 2014) cite the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV000412002 | SCV004217359 | pathogenic | Bardet-Biedl syndrome 1 | 2023-10-20 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000412002 | SCV002092365 | pathogenic | Bardet-Biedl syndrome 1 | 2020-05-08 | no assertion criteria provided | clinical testing |