Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000735933 | SCV004641513 | pathogenic | Bardet-Biedl syndrome | 2023-06-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly42Glufs*11) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 16877420). ClinVar contains an entry for this variant (Variation ID: 585187). |
Fulgent Genetics, |
RCV005027880 | SCV005654428 | pathogenic | Bardet-Biedl syndrome 5 | 2024-05-02 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics |
RCV000735933 | SCV000839570 | pathogenic | Bardet-Biedl syndrome | 2018-09-15 | no assertion criteria provided | provider interpretation | |
Prevention |
RCV004753002 | SCV005354674 | pathogenic | BBS5-related disorder | 2024-08-21 | no assertion criteria provided | clinical testing | The BBS5 c.123delA variant is predicted to result in a frameshift and premature protein termination (p.Gly42Glufs*11). This variant has been reported in the homozygous state in individuals of a family with Bardet-Biedl syndrome (Smaoui et al. 2006. PubMed ID: 16877420). This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in BBS5 are expected to be pathogenic. This variant is interpreted as pathogenic. |