Submissions for variant NM_006019.4(TCIRG1):c.1978del (p.Arg660fs)

dbSNP: rs2134462969

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001993329	SCV002234443	pathogenic	not provided	2021-09-14	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TCIRG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg660Alafs*27) 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).
Myriad Genetics, Inc.	RCV002307805	SCV002604201	likely pathogenic	Autosomal recessive osteopetrosis 1	2022-02-25	criteria provided, single submitter	clinical testing	NM_006019.3(TCIRG1):c.1978delC(R660Afs*27) is expected to be pathogenic in the context of autosomal recessive osteopetrosis type 1. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in TCIRG1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.