ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter)

dbSNP: rs1156299579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001983014 SCV002241447 pathogenic not provided 2023-06-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1460225). This premature translational stop signal has been observed in individual(s) with malignant infantile osteopetrosis (PMID: 11532986). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln230*) 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).
Molecular Lab, Department of Haematology, Christian Medical College RCV002246627 SCV002516028 pathogenic Autosomal recessive osteopetrosis 1 2022-05-20 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002246627 SCV002523188 pathogenic Autosomal recessive osteopetrosis 1 2022-03-06 criteria provided, single submitter clinical testing

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