Submissions for variant NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu)

gnomAD frequency: 0.00021  dbSNP: rs377594629

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001002447	SCV000414559	likely benign	Familial cold autoinflammatory syndrome 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV001002447	SCV001107531	likely benign	Familial cold autoinflammatory syndrome 2	2024-01-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001002447	SCV001160387	likely benign	Familial cold autoinflammatory syndrome 2	2020-08-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263586	SCV002542559	uncertain significance	Autoinflammatory syndrome	2020-01-01	criteria provided, single submitter	clinical testing
Genetics and Molecular Pathology, SA Pathology	RCV001002447	SCV002761674	likely benign	Familial cold autoinflammatory syndrome 2	2020-11-09	criteria provided, single submitter	clinical testing	The NLRP12 c.629C>T variant is classified as Likely Benign (BS1, BP6) The frequency of this variant in population databases is higher than expected for this disorder (BS1).
PreventionGenetics, part of Exact Sciences	RCV003910271	SCV004723788	likely benign	NLRP12-related disorder	2019-12-24	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).