ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.195C>T (p.Tyr65=) (rs104895077)

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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 RCV000587862 SCV000696059 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing Variant summary: The MEFV c.195C>T (p.Tyr65Tyr) 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 ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 31/121046 control chromosomes at a frequency of 0.0002561, which does not exceed the estimated maximal expected allele frequency of a pathogenic MEFV variant (0.0216506), but does not rule out a possibility for it to be a rare functional polymorphism. The variant of interest has been reported as Polymorphism via published report (s). Taking together, the variant was classified as VUS-Possibly Benign until more evidence becomes available.
Invitae RCV000083726 SCV000753989 likely benign Familial Mediterranean fever 2017-10-31 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083726 SCV000115819 not provided Familial Mediterranean fever no assertion provided not provided

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