Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792778 | SCV000932098 | pathogenic | Bardet-Biedl syndrome | 2022-10-20 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 5-6 of the BBS4 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). A similar copy number variant has been observed in individuals with Bardet-Biedl syndrome (PMID: 27486776). For these reasons, this variant has been classified as Pathogenic. |