Submissions for variant NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)

gnomAD frequency: 0.00144  dbSNP: rs34227834

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224444	SCV000281552	likely benign	not provided	2015-06-15	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV000290752	SCV000373702	likely benign	Autosomal recessive osteopetrosis 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000224444	SCV001105227	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000224444	SCV001988930	uncertain significance	not provided	2019-04-08	criteria provided, single submitter	clinical testing	Reported (as rs34227834) in association reduced neutrophil count (Rosenthal et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27229898)
Natera, Inc.	RCV000290752	SCV001456349	likely benign	Autosomal recessive osteopetrosis 1	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224444	SCV001799826	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224444	SCV001966754	likely benign	not provided		no assertion criteria provided	clinical testing