Submissions for variant NM_006019.4(TCIRG1):c.307C>T (p.Arg103Cys)

gnomAD frequency: 0.00006  dbSNP: rs771198568

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880633	SCV001023747	benign	not provided	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002539295	SCV003697928	uncertain significance	Inborn genetic diseases	2021-09-15	criteria provided, single submitter	clinical testing	The c.307C>T (p.R103C) alteration is located in exon 4 (coding exon 3) of the TCIRG1 gene. This alteration results from a C to T substitution at nucleotide position 307, causing the arginine (R) at amino acid position 103 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV000880633	SCV005319201	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001276531	SCV001462922	benign	Autosomal recessive osteopetrosis 1	2020-04-15	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930519	SCV004756024	likely benign	TCIRG1-related disorder	2020-01-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).