Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411939 | SCV000486801 | likely pathogenic | Bardet-Biedl syndrome 1 | 2016-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001383772 | SCV001583038 | pathogenic | Bardet-Biedl syndrome | 2022-07-05 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu549Glyfs*9) in the BBS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the BBS1 protein. This premature translational stop signal has been observed in individual(s) with BBS1-related conditions (Invitae). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BBS1 protein in which other variant(s) (p.Arg570*) have been determined to be pathogenic (PMID: 25170860, 28559085). 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: 371262). |
Baylor Genetics | RCV000411939 | SCV004217372 | pathogenic | Bardet-Biedl syndrome 1 | 2023-07-26 | criteria provided, single submitter | clinical testing |