ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1957C>T (p.Arg653Cys) (rs375716505)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000587289 SCV000344296 uncertain significance not provided 2016-08-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587289 SCV000696056 uncertain significance not provided 2016-12-08 criteria provided, single submitter clinical testing Variant summary: The MEFV c.1957C>T (p.Arg653Cys) variant involves the alteration of a not conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 3/121174 control chromosomes at a frequency of 0.0000248, which does not exceed the estimated maximal expected allele frequency of a pathogenic MEFV variant (0.0216506). This variant has been reported in one affected individual, and has not been reported by any clinical labs or evaluated for functional effect via any in vitro/vivo studies at the time of evaluation. Taken together, this variant is classified as VUS until more information becomes available.

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