Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000669060 | SCV000793761 | likely pathogenic | Autosomal recessive osteopetrosis 1 | 2017-08-30 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001855513 | SCV002294933 | likely pathogenic | not provided | 2023-04-17 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 553582). This variant has not been reported in the literature in individuals affected with TCIRG1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change affects a donor splice site in intron 8 of the TCIRG1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TCIRG1 are known to be pathogenic (PMID: 10888887, 10942435, 11532986, 19448635). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Baylor Genetics | RCV000669060 | SCV004205817 | likely pathogenic | Autosomal recessive osteopetrosis 1 | 2022-06-18 | criteria provided, single submitter | clinical testing |