Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169474 | SCV000220920 | likely pathogenic | Bardet-Biedl syndrome 10 | 2014-11-25 | criteria provided, single submitter | literature only | |
Invitae | RCV000638365 | SCV000759864 | pathogenic | Bardet-Biedl syndrome | 2017-09-22 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the BBS10 gene (p.Lys243Ilefs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 481 amino acids (~67%) of the BBS10 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals and families affected with Bardet-Biedl syndrome (PMID: 16582908, 22773737, 24041679) and to segregate with disease in several families (PMID:17106446, 22353939). It has been suggested as a founder mutation in the South Africa population (PMID: 27245532). This variant is also known as c.995_999delAAGA (p.Q242fs258X) in the literature. ClinVar contains an entry for this variant (Variation ID: 189071). Different truncations downstream of this variant (p.Val707* and p.Gly677Valfs*5) have been determined to be pathogenic (PMID: 25982971, 22773737, 27486776, 20472660, Invitae). This suggests that deletion of this region of the BBS10 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Medical Genetics, |
RCV000638365 | SCV000839564 | pathogenic | Bardet-Biedl syndrome | 2018-09-15 | no assertion criteria provided | provider interpretation |