Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670440 | SCV000795292 | likely pathogenic | GRACILE syndrome | 2017-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855542 | SCV002125196 | pathogenic | not provided | 2021-03-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BCS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 554756). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp258Thrfs*13) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 17314340, 25895478). |