Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669901 | SCV000794701 | likely pathogenic | Bardet-Biedl syndrome 10 | 2017-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855531 | SCV002148411 | pathogenic | Bardet-Biedl syndrome | 2022-11-08 | 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: 554291). This variant has not been reported in the literature in individuals affected with BBS10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser10Glyfs*82) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 714 amino acid(s) of the BBS10 protein. |