Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000666514 | SCV000790819 | likely pathogenic | Autosomal recessive osteopetrosis 1 | 2017-04-11 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001855462 | SCV002111464 | pathogenic | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro81Argfs*85) in the TCIRG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCIRG1 are known to be pathogenic (PMID: 10888887, 10942435, 11532986, 19448635). 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: 551450). This premature translational stop signal has been observed in individual(s) with infantile malignant osteopetrosis (PMID: 21042819). |
| Fulgent Genetics, |
RCV000666514 | SCV002816347 | pathogenic | Autosomal recessive osteopetrosis 1 | 2022-01-05 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000666514 | SCV004205741 | likely pathogenic | Autosomal recessive osteopetrosis 1 | 2023-09-24 | criteria provided, single submitter | clinical testing |