Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671907 | SCV000796940 | likely pathogenic | GRACILE syndrome | 2018-01-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001383886 | SCV001583206 | pathogenic | not provided | 2023-10-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro274Argfs*26) 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). This variant is present in population databases (rs768595326, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Bjornstad syndrome (PMID: 28105683). ClinVar contains an entry for this variant (Variation ID: 555982). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003472142 | SCV004210815 | pathogenic | Pili torti-deafness syndrome | 2024-03-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000671907 | SCV002076354 | pathogenic | GRACILE syndrome | 2020-05-01 | no assertion criteria provided | clinical testing |