Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000785901 | SCV000924477 | likely pathogenic | Bardet-Biedl syndrome 5 | 2018-06-15 | criteria provided, single submitter | research | The homozygous c.386+1G>T variant was identified by our study in one individual with Bardet-Biedl syndrome. This variant was absent from large population studies. The c.386+1G>T variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the BBS5 gene is an established disease mechanism in autosomal recessive Bardet-Biedl syndrome, and this is a loss of function variant. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. |