ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.585G>A (p.Glu195=) (rs200766991)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000394728 SCV000334728 benign not specified 2015-09-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272525 SCV000396777 uncertain significance Familial Mediterranean fever 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590478 SCV000696075 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing Variant summary: The MEFV c.585G>A (p.Glu195Glu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 121/63638 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.022143 (100/4516). This frequency is slightly above the estimated maximal expected allele frequency of a pathogenic MEFV variant (0.0216506), suggesting this is possibly a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000272525 SCV000629046 benign Familial Mediterranean fever 2017-04-17 criteria provided, single submitter clinical testing

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