Research Article

RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant

Table 2

Variants according to in silico analysis.

ā€‰VariantInterVarPolyPhen2Mutation tasterSIFTMEN2 databaseReport

1p.H658RUncertain significanceBenign with 0.006 score:Sensitivity 0.97Specificity 0.75Disease causingTolerated (SIFT score 0.5)ā€‰Novel
2p.V648ILikely benignBenign with 0.006 score:Sensitivity 0.97Specificity 0.75Disease causing (NMD, amino acid sequence change, protein features might be affected, and splice site changes)Tolerated (SIFT score 0.43)Uncertain[9] (2002)