Submissions for variant NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)

gnomAD frequency: 0.00287  dbSNP: rs149451729

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000546624	SCV000655415	benign	Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4	2024-01-26	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000546624	SCV000782771	uncertain significance	Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4	2018-02-08	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000546624	SCV002495868	uncertain significance	Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4	2022-02-16	criteria provided, single submitter	clinical testing	NLRC4 NM_021209.4 exon 6 p.Gly786Val (c.2357G>T): This variant has been reported in the literature in at least 1 individual with Presumed Ocular Histoplasmosis Syndrome (POHS) (Li 2020 32707200). This variant is present in 0.4% (288/68040) of European alleles including 3 homozygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-32238296-C-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:475252). Evolutionary conservation suggests that this variant may not impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV001706673	SCV002498548	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	NLRC4: BP4, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263805	SCV002543545	benign	Autoinflammatory syndrome	2022-02-23	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002268166	SCV002552164	uncertain significance	not specified	2023-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925704	SCV004745798	benign	NLRC4-related disorder	2019-11-21	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706673	SCV001928107	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706673	SCV001971398	likely benign	not provided		no assertion criteria provided	clinical testing