ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.657C>T (p.Gly219=) (rs104895182)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586001 SCV000696078 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing Variant summary: The MEFV c.657C>T (p.Gly219Gly) 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. 4/5 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 11/104626 control chromosomes at a frequency of 0.0001051, which does not exceed the estimated maximal expected allele frequency of a pathogenic MEFV variant (0.0216506). The variant has been reported in the literature, without strong evidence for causality. One clinical diagnostic laboratory classified this variant as likely benign without providing evidence for independent review. Taken together, this variant is classified as VUS-possibly benign.
PreventionGenetics RCV000251868 SCV000303128 likely benign not specified criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083786 SCV000115884 not provided Familial Mediterranean fever no assertion provided not provided

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