Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003522947 | SCV004294235 | pathogenic | Bardet-Biedl syndrome | 2022-11-27 | 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: 217440). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 26518167). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr516Asnfs*8) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 208 amino acid(s) of the BBS10 protein. |
Department Of Medical Genetics, |
RCV000207760 | SCV000255613 | pathogenic | Bardet-Biedl syndrome 10 | 2015-10-05 | no assertion criteria provided | research |