Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410534 | SCV000486468 | likely pathogenic | GRACILE syndrome | 2016-06-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001218287 | SCV001390162 | pathogenic | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser82*) 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 (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BCS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 371015). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001334242 | SCV001527034 | pathogenic | Mitochondrial complex III deficiency nuclear type 1 | 2018-04-10 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Baylor Genetics | RCV003475959 | SCV004210805 | pathogenic | Pili torti-deafness syndrome | 2023-07-11 | criteria provided, single submitter | clinical testing | |
Juno Genomics, |
RCV004796164 | SCV005418753 | pathogenic | Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 | criteria provided, single submitter | clinical testing | PVS1+PM2_Supporting+PM3+PP4 |