Submissions for variant NM_173842.3(IL1RN):c.69G>A (p.Thr23=)

gnomAD frequency: 0.00055  dbSNP: rs2232353

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000269844	SCV000416027	likely benign	Sterile multifocal osteomyelitis with periostitis and pustulosis	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 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	RCV000269844	SCV000768503	benign	Sterile multifocal osteomyelitis with periostitis and pustulosis	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658875	SCV000780674	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	IL1RN: BP4, BP7
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263599	SCV002543466	likely benign	Autoinflammatory syndrome	2021-06-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002480172	SCV002796088	likely benign	Microvascular complications of diabetes, susceptibility to, 4; Sterile multifocal osteomyelitis with periostitis and pustulosis; Gastric cancer	2021-11-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003352841	SCV004072323	likely benign	Inborn genetic diseases	2023-07-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.