Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672113 | SCV000797179 | likely pathogenic | Bardet-Biedl syndrome 10 | 2018-01-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000672113 | SCV002798272 | likely pathogenic | Bardet-Biedl syndrome 10 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002531305 | SCV003283785 | pathogenic | Bardet-Biedl syndrome | 2022-11-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 556154). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (Invitae). This variant is present in population databases (rs753604828, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Ile375Tyrfs*3) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 349 amino acid(s) of the BBS10 protein. |