ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.333G>A (p.Gly111=) (rs61732425)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000083769 SCV000629044 benign Familial Mediterranean fever 2020-11-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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:
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
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083769 SCV000115865 not provided Familial Mediterranean fever no assertion provided not provided

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