Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV002485783 | SCV002796876 | pathogenic | Bardet-Biedl syndrome 10 | 2021-10-18 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000735923 | SCV003786570 | pathogenic | Bardet-Biedl syndrome | 2023-08-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr381*) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 343 amino acid(s) of the BBS10 protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with BBS10-related conditions (PMID: 30614526). ClinVar contains an entry for this variant (Variation ID: 585177). This variant disrupts a region of the BBS10 protein in which other variant(s) (p.Val707*) have been determined to be pathogenic (PMID: 20472660, 22773737, 25982971, 27486776). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. |
| SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation | RCV000735923 | SCV003915907 | pathogenic | Bardet-Biedl syndrome | criteria provided, single submitter | research | This variant was observed in compound heterozygosity with variant NC_000012.11:g.76741496dup | |
| Laboratory of Medical Genetics |
RCV000735923 | SCV000839557 | pathogenic | Bardet-Biedl syndrome | 2018-09-15 | no assertion criteria provided | provider interpretation |