Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV001289553 | SCV001477506 | likely pathogenic | Autosomal recessive osteopetrosis 1 | 2020-12-17 | criteria provided, single submitter | clinical testing | |
Molecular Lab, |
RCV001289553 | SCV002516050 | pathogenic | Autosomal recessive osteopetrosis 1 | 2022-05-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001289553 | SCV002779473 | pathogenic | Autosomal recessive osteopetrosis 1 | 2021-11-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002538381 | SCV003440553 | pathogenic | not provided | 2023-03-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 995579). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with osteopetrosis (PMID: 20424301). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln562*) 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). |
Baylor Genetics | RCV001289553 | SCV004205750 | pathogenic | Autosomal recessive osteopetrosis 1 | 2023-08-10 | criteria provided, single submitter | clinical testing |