Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666720 | SCV000791065 | likely pathogenic | Bardet-Biedl syndrome 10 | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000806720 | SCV000946734 | pathogenic | Bardet-Biedl syndrome | 2023-09-12 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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: 551609). 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.Arg256*) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 468 amino acid(s) of the BBS10 protein. |
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation | RCV000806720 | SCV003915873 | pathogenic | Bardet-Biedl syndrome | criteria provided, single submitter | research | ||
Institute of Medical Genetics and Applied Genomics, |
RCV000806720 | SCV004013001 | pathogenic | Bardet-Biedl syndrome | 2023-07-17 | criteria provided, single submitter | clinical testing |