Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673264 | SCV000798446 | likely pathogenic | GRACILE syndrome | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768005 | SCV004678099 | pathogenic | not provided | 2022-11-10 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557160). This variant has not been reported in the literature in individuals affected with BCS1L-related conditions. This sequence change creates a premature translational stop signal (p.Asp125Argfs*19) 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: 12215968, 17314340, 19162478, 19508421, 22277166, 25895478). |