Submissions for variant NM_144687.4(NLRP12):c.2830C>A (p.Arg944=)

dbSNP: rs104895570

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000283785	SCV000414519	likely benign	Familial cold autoinflammatory syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000560378	SCV000646333	benign	Familial cold autoinflammatory syndrome 2	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000560378	SCV000743600	benign	Familial cold autoinflammatory syndrome 2	2016-07-06	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000560378	SCV000744915	likely benign	Familial cold autoinflammatory syndrome 2	2017-06-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000560378	SCV001157664	benign	Familial cold autoinflammatory syndrome 2	2023-10-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000084148	SCV001502268	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	NLRP12: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262684	SCV002542525	benign	Autoinflammatory syndrome	2022-02-08	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000560378	SCV003920282	uncertain significance	Familial cold autoinflammatory syndrome 2	2021-03-30	criteria provided, single submitter	clinical testing	NLRP12 c.2833C>A Heterozygous. Heterozygous missense mutations of this gene can cause Familial cold autoinflammatory syndrome 2. The identified heterozygous variant is predicted to be a synonymous substitution with no change in the amino acid sequence but may have an unknown effect on splicing. This variant has not been reported in the literature and has rarely been reported in publicly available databases of healthy individuals. Therefore, the clinical significance of this heterozygous variant is uncertain.
Breakthrough Genomics, Breakthrough Genomics	RCV000084148	SCV005205953	likely benign	not provided		criteria provided, single submitter	not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000084148	SCV000116279	not provided	not provided		no assertion provided	not provided
PreventionGenetics, part of Exact Sciences	RCV003915109	SCV004734233	benign	NLRP12-related disorder	2019-04-05	no assertion criteria provided	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).