Submissions for variant NM_000243.3(MEFV):c.585G>A (p.Glu195=)

dbSNP: rs200766991

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000394728	SCV000334728	benign	not specified	2015-09-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272525	SCV000396777	uncertain significance	Familial Mediterranean fever	2018-01-12	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000272525	SCV000629046	benign	Familial Mediterranean fever	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000394728	SCV000696075	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000394728	SCV001158854	benign	not specified	2019-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001711853	SCV001939663	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262922	SCV002542290	likely benign	Autoinflammatory syndrome	2018-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356371	SCV002650276	likely benign	Inborn genetic diseases	2022-05-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Natera, Inc.	RCV000272525	SCV001465376	likely benign	Familial Mediterranean fever	2020-10-09	no assertion criteria provided	clinical testing