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

dbSNP: rs1156299579

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	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
Baylor Genetics	RCV002246627	SCV005052940	pathogenic	Autosomal recessive osteopetrosis 1	2024-03-25	criteria provided, single submitter	clinical testing