Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000198339 | SCV000253972 | pathogenic | Bardet-Biedl syndrome | 2015-04-06 | criteria provided, single submitter | clinical testing | This sequence change deletes 3 nucleotides and inserts 1 nucleotide in exon 18 of the BBS7 mRNA (c.1986_1988delGCAinsT), causing a frameshift at codon 662. This creates a premature translational stop signal (p.Lys662Asnfs*6) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in BBS7 are known to be pathogenic (PMID: 21209035, 20177705). |