Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411271 | SCV000486632 | likely pathogenic | Bardet-Biedl syndrome 10 | 2016-07-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861388 | SCV002242103 | pathogenic | Bardet-Biedl syndrome | 2022-04-07 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 16582908; Invitae). This variant is also known as T514fsX523. ClinVar contains an entry for this variant (Variation ID: 371134). 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. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp515Ilefs*9) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 209 amino acid(s) of the BBS10 protein. |