Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000665648 | SCV000789802 | pathogenic | Bardet-Biedl syndrome 2 | 2017-02-21 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000796443 | SCV000935957 | pathogenic | Bardet-Biedl syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg189*) 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 present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 16877420, 23432027, 28800606). ClinVar contains an entry for this variant (Variation ID: 550801). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000796443 | SCV001372323 | pathogenic | Bardet-Biedl syndrome | 2020-06-22 | criteria provided, single submitter | clinical testing | Variant summary: BBS2 c.565C>T (p.Arg189X) 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 allele was found at a frequency of 8e-06 in 251318 control chromosomes (gnomAD). c.565C>T has been reported in the literature in multiple homozygous individuals affected with Bardet-Biedl Syndrome (e.g. Castro-Sanchez_2017, Mhamdi_2014, Smaoui_2006). These data indicate that the variant is very likely to be associated with disease. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV000665648 | SCV004214035 | pathogenic | Bardet-Biedl syndrome 2 | 2024-03-20 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV004817870 | SCV005068664 | pathogenic | Retinal dystrophy | 2021-01-01 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000665648 | SCV002089300 | pathogenic | Bardet-Biedl syndrome 2 | 2021-05-21 | no assertion criteria provided | clinical testing |