ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.333G>A (p.Gly111=)

gnomAD frequency: 0.00339  dbSNP: rs61732425
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000083769 SCV000629044 benign Familial Mediterranean fever 2024-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593418 SCV000709301 benign not specified 2017-06-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756331 SCV000884108 likely benign not provided 2017-07-26 criteria provided, single submitter clinical testing The MEFV c.333G>A;p.Gly111Gly variant has not been described in the medical literature, but is listed in a gene-specific database in a symptomatic individual (see link). The variant is listed in the ClinVar database (Variation ID: 97517) and the dbSNP variant database (rs61732425) with an allele frequency of up to 0.7373 percent (32/4308 alleles) in the African American population in the Exome Variant Server and up to 1.081 percent in the African population in the Genome Aggregation Consortium (251/23226 alleles, 2 homozygotes). The nucleotide at this position is weakly conserved and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict this variant does not significantly alter splicing. Considering available information, this variant is classified as likely benign. References: Link to Infevers database: http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000593418 SCV001426904 likely benign not specified 2020-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000756331 SCV001891062 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262645 SCV002543755 likely benign Autoinflammatory syndrome 2020-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321582 SCV002605620 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.
Genome-Nilou Lab RCV000083769 SCV003802413 likely benign Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126473 SCV003802414 benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126474 SCV003802415 benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083769 SCV000115865 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000083769 SCV002087469 likely benign Familial Mediterranean fever 2019-12-09 no assertion criteria provided clinical testing

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