Submissions for variant NM_005546.4(ITK):c.578G>A (p.Arg193Gln)

gnomAD frequency: 0.00396  dbSNP: rs17054374

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000556958	SCV000455866	benign	Lymphoproliferative syndrome 1	2018-01-12	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000556958	SCV000652557	benign	Lymphoproliferative syndrome 1	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263632	SCV002543509	likely benign	Autoinflammatory syndrome	2022-02-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV003151042	SCV003839624	benign	not specified	2022-07-27	no assertion criteria provided	clinical testing