Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498071 | SCV000590683 | pathogenic | not provided | 2017-06-13 | criteria provided, single submitter | clinical testing | The c.83_84delGCinsAG variant in the BBS10 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.83_84delGCinsAG variant results in the replacement of the normal Cysteine residue at position 28 with a premature Stop codon, denoted p.C28X. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.83_84delGCinsAG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.83_84delGCinsAG as a pathogenic variant. |
Counsyl | RCV000984151 | SCV001132134 | likely pathogenic | Bardet-Biedl syndrome 10 | 2015-02-17 | no assertion criteria provided | clinical testing |