Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409243 | SCV000487240 | likely pathogenic | GRACILE syndrome | 2016-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001266390 | SCV001444564 | pathogenic | Inborn genetic diseases | 2019-10-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001865274 | SCV002180923 | pathogenic | not provided | 2023-03-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371616). This variant has not been reported in the literature in individuals affected with BCS1L-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu140Trpfs*18) 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). |