Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001040490 | SCV001204066 | pathogenic | Cataract 33 | 2019-04-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln300*) in the BFSP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BFSP1-related conditions. Loss-of-function variants in BFSP1 are known to be pathogenic (PMID: 12454043, 14638724, 17225135). For these reasons, this variant has been classified as Pathogenic. |