Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000673635 | SCV000798862 | likely pathogenic | Bardet-Biedl syndrome 2 | 2018-03-27 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002532151 | SCV003268130 | pathogenic | Bardet-Biedl syndrome | 2023-10-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys210Serfs*20) 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 (rs773417074, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 15770229). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.627delTT. ClinVar contains an entry for this variant (Variation ID: 557486). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002532151 | SCV003923220 | likely pathogenic | Bardet-Biedl syndrome | 2023-03-29 | criteria provided, single submitter | clinical testing | Variant summary: BBS2 c.627_628delTT (p.Cys210SerfsX20) 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 251012 control chromosomes. c.627_628delTT has been reported in the literature in a compound heterozygous state in an individual affected with Bardet-Biedl Syndrome who was reported to have an affected sibling, although it was not reported whether they were also genotyped (e.g. Hichri_2005, Schaefer_2011). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic and likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Baylor Genetics | RCV000673635 | SCV004213999 | pathogenic | Bardet-Biedl syndrome 2 | 2023-10-03 | criteria provided, single submitter | clinical testing |