Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410319 | SCV000485363 | likely pathogenic | GRACILE syndrome | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001043703 | SCV001207462 | pathogenic | not provided | 2020-09-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 17314340, 25895478). This variant has not been reported in the literature in individuals with BCS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 370128). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg203Lysfs*9) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. |