Table 1

Representative examples of equivocal variant interpretation for HRF genes

GeneRefSeqVariant (HGVS nomenclature)Information available prior to present work
NucleotideProteinReview status in ClinVarPhenotype(s) of patient recorded in INFEVERSPathogenicity prediction in silico tools*
MEFV NM_000243.3c.330G>Ap.(Leu110Pro)ConflictingUnknownBenign
c.442G>Cp.(Glu148Gln)ConflictingVariousConflicting
c.866C>Tp.(Ala289Val)AbsentFMFBenign
TNFRSF1A NM_001065.3c.255G>Cp.(Glu85Asp)AbsentTRAPS and asymptomaticBenign
c.362G>Ap.(Arg121Gln)ConflictingVariousConflicting
MVK NM_000431.3c.238G>Ap.(Val80Ile)ConflictingUnknownBenign
c.805G>Cp.(Asp269His)AbsentUnknownConflicting
NLRP3 NM_001243133.1c.592G>Ap.(Val198Met)ConflictingVariousBenign
c.1625C>Tp.(Thr542Met)AbsentCAPSBenign
  • *AGVGD, SIFT, Polyphen-2 and CADD score.

  • CAPS, cryopyrin-associated periodic syndromes; FMF, familial Mediterranean fever; HGVS, Human Genome Variant Society; HRF, hereditary recurrent fever; TRAPS, TNF receptor-associated periodic syndrome.