Submissions for variant NM_000243.3(MEFV):c.42G>A (p.Glu14=)

gnomAD frequency: 0.00369  dbSNP: rs113314808

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126744	SCV000170256	benign	not specified	2012-01-23	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.
Invitae	RCV001081766	SCV000629045	benign	Familial Mediterranean fever	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000126744	SCV000696071	likely benign	not specified	2020-09-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812067	SCV000885681	benign	not provided	2019-07-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001081766	SCV001280051	uncertain significance	Familial Mediterranean fever	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262730	SCV002543764	likely benign	Autoinflammatory syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326835	SCV002629724	likely benign	Inborn genetic diseases	2022-04-01	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.
PreventionGenetics, part of Exact Sciences	RCV004544271	SCV004784166	benign	MEFV-related disorder	2019-08-21	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).
Natera, Inc.	RCV001081766	SCV002087483	likely benign	Familial Mediterranean fever	2019-12-05	no assertion criteria provided	clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV001081766	SCV002754544	likely benign	Familial Mediterranean fever	2022-06-15	no assertion criteria provided	clinical testing