ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.42G>A (p.Glu14=) (rs113314808)

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Total submissions: 5
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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 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588530 SCV000696071 likely benign not provided 2016-07-19 criteria provided, single submitter clinical testing Variant summary: The MEFV c.42G>A (p.Glu14Glu) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 131/121362 (1/926,1 homozygote), predominantly observed in the African cohort, 117/10394(1/88, 1 homozygote), which does not exceed the estimated maximal expected allele frequency for a pathogenic MEFV variant of 1/46. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, although a reputable clinical laboratory cites the variant as "benign." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as likely benign until additional information becomes available.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000588530 SCV000885681 benign not provided 2018-02-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.

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