Submissions for variant NM_000243.3(MEFV):c.414A>G (p.Gly138=)

dbSNP: rs224224

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030183	SCV000052847	benign	Familial Mediterranean fever	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
GeneDx	RCV000126740	SCV000170252	benign	not specified	2011-07-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000126740	SCV000303124	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000126740	SCV000331352	benign	not specified	2015-12-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000030183	SCV000396781	benign	Familial Mediterranean fever	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001355696	SCV000604163	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000030183	SCV001717596	benign	Familial Mediterranean fever	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533778	SCV001750596	benign	Familial Mediterranean fever, autosomal dominant	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000030183	SCV001750597	benign	Familial Mediterranean fever	2021-07-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262589	SCV002543763	benign	Autoinflammatory syndrome	2016-12-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326695	SCV002630206	benign	Inborn genetic diseases	2016-10-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002496463	SCV002812357	likely benign	Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis	2021-09-02	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000126740	SCV004101896	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 75% of patients studied by a panel of primary immunodeficiencies. Number of patients: 72. Only high quality variants are reported.
Natera, Inc.	RCV000030183	SCV001452091	benign	Familial Mediterranean fever	2020-09-16	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001355696	SCV001550651	uncertain significance	not provided		no assertion criteria provided	clinical testing	Allele frequency is common in at least one population database (frequency: 61.912% in ExAC) based on the frequency threshold of 1.904% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease. A synonymous variant not located in a splice region.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000126740	SCV001739684	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000126740	SCV001929209	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001355696	SCV002074702	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.