Submissions for variant NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser)

gnomAD frequency: 0.00069  dbSNP: rs150671525

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000969327	SCV000414529	benign	Familial cold autoinflammatory syndrome 2	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000969327	SCV001116838	likely benign	Familial cold autoinflammatory syndrome 2	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000969327	SCV001472876	likely benign	Familial cold autoinflammatory syndrome 2	2020-07-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263055	SCV002543589	likely benign	Autoinflammatory syndrome	2018-12-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002274984	SCV002563544	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	NLRP12: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003910269	SCV004720855	likely benign	NLRP12-related disorder	2022-12-20	criteria provided, single submitter	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).