Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002638103 | SCV003521479 | pathogenic | Bardet-Biedl syndrome | 2023-07-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2200217). This variant is also known as c.515dupA. This premature translational stop signal has been observed in individual(s) with BBS4-related conditions (PMID: 23591405). This variant is present in population databases (rs779047261, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Ile172Asnfs*18) in the BBS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). |
| Baylor Genetics | RCV003459768 | SCV004214075 | pathogenic | Bardet-Biedl syndrome 4 | 2024-02-21 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV003459768 | SCV005630880 | pathogenic | Bardet-Biedl syndrome 4 | 2024-06-05 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004750304 | SCV005344449 | likely pathogenic | BBS4-related disorder | 2024-07-15 | no assertion criteria provided | clinical testing | The BBS4 c.514dupA variant is predicted to result in a frameshift and premature protein termination (p.Ile172Asnfs*18). This variant was reported in an individual with Bardet-Biedl syndrome (referred to as c.515dupA, p.I172NfsX18 in Supplementary Table 1, Glöckle et al. 2014. PubMed ID: 23591405). This variant is reported in 0.020% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Frameshift variants in BBS4 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |