ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.515A>C (p.Gln172Pro)

gnomAD frequency: 0.00001  dbSNP: rs104895211
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220620 SCV000279036 uncertain significance not provided 2013-05-23 criteria provided, single submitter clinical testing To our knowledge, the Q172P missense substitution has not been published as a pathogenic variant, but has been reported in an individual with a suspected periodic fever syndrome (Kohilan et al., 2009; Personal communication with an external gene expert). Q172P represents a non-conservative amino acid substitution as a polar Glutamine residue is replaced with a non-polar Proline residue. In addition, this substitution occurs at a position in the MEFV protein that is highly conserved among species. This suggests that Q172P may be a pathogenic variant that is associated with inflammatory disease; however, we cannot rule out the possibility that it is a benign polymorphism.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083778 SCV000115876 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000083778 SCV002087453 uncertain significance Familial Mediterranean fever 2021-04-01 no assertion criteria provided clinical testing

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