Submissions for variant NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)

gnomAD frequency: 0.20976  dbSNP: rs224222

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000175564	SCV000170254	benign	not specified	2011-12-09	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.
Eurofins Ntd Llc (ga)	RCV000175564	SCV000227073	benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000175564	SCV000303127	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000030185	SCV000396776	benign	Familial Mediterranean fever	2018-03-06	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	RCV001355268	SCV000604165	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000030185	SCV001720801	benign	Familial Mediterranean fever	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533776	SCV001750592	benign	Familial Mediterranean fever, autosomal dominant	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000030185	SCV001750593	benign	Familial Mediterranean fever	2021-07-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262591	SCV002542293	benign	Autoinflammatory syndrome	2022-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354173	SCV002654916	benign	Inborn genetic diseases	2014-08-12	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.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000175564	SCV004102094	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 52% of patients studied by a panel of primary immunodeficiencies. Number of patients: 50. Only high quality variants are reported.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030185	SCV000052851	benign	Familial Mediterranean fever	2011-11-15	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001355268	SCV001550100	uncertain significance	not provided		no assertion criteria provided	clinical testing	Allele frequency is common in at least one population database (frequency: 41.265% 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.