Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003633480 | SCV004388638 | pathogenic | Bardet-Biedl syndrome | 2023-02-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp59*) in the BBS5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS5 are known to be pathogenic (PMID: 15137946, 16877420, 26325687, 27708425, 28041643, 29806606). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 15137946). ClinVar contains an entry for this variant (Variation ID: 6160). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000006535 | SCV000026718 | pathogenic | Bardet-Biedl syndrome 5 | 2004-05-14 | no assertion criteria provided | literature only |