Submissions for variant NM_144687.4(NLRP12):c.2754G>C (p.Leu918=)

gnomAD frequency: 0.00692  dbSNP: rs61741347

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001001882	SCV000414524	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	RCV001001882	SCV000646332	benign	Familial cold autoinflammatory syndrome 2	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001882	SCV001159618	benign	Familial cold autoinflammatory syndrome 2	2021-09-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263054	SCV002542519	likely benign	Autoinflammatory syndrome	2020-11-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003969945	SCV004790868	benign	NLRP12-related disorder	2019-05-01	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).