Submissions for variant NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)

dbSNP: rs1565156743

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002000041	SCV002229093	pathogenic	not provided	2023-10-02	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Cys324Trpfs*166) 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). This premature translational stop signal has been observed in individual(s) with osteopetrosis (PMID: 11532986). ClinVar contains an entry for this variant (Variation ID: 1452934). For these reasons, this variant has been classified as Pathogenic.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	RCV002227570	SCV002507157	pathogenic	Autosomal recessive osteopetrosis 1	2022-05-09	criteria provided, single submitter	clinical testing
Molecular Lab, Department of Haematology, Christian Medical College	RCV002227570	SCV002516047	pathogenic	Autosomal recessive osteopetrosis 1	2022-05-20	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV002227570	SCV004205792	likely pathogenic	Autosomal recessive osteopetrosis 1	2023-03-23	criteria provided, single submitter	clinical testing