PS1
Not assessed: no established pathogenic variant producing the same amino-acid change (p.Thr138Asn) exists; this is the only single-nucleotide change that yields Asn at codon 138.
PS2
Not assessed: no proband, parental, or de novo occurrence data were available to evaluate.
PS3
Not assessed: no validated variant-specific functional assay data were available; in silico predictions do not qualify as functional studies.
PS4
Not assessed: no case-control or cohort enrichment data exist for this variant.
PM1
Not assessed: position 138 is not a known IDH2 hotspot (R140/R172 are), and no protein-domain annotation was available to evaluate the critical-domain arm.
PM3
Not assessed: no second pathogenic allele or phase (trans/cis) information was available, and no recessive germline disorder applies.
PM5
Not assessed: no different missense change at residue 138 has been established as pathogenic.
PM6
Not assessed: no de novo occurrence data, confirmed or unconfirmed, were available.
PP1
Not assessed: no segregation or pedigree data were available, and IDH2's germline disease association is not established.
PP2
Not assessed: missense is a common disease mechanism for IDH2, but no gene-level missense constraint metric was available.
PP4
Not assessed: no proband phenotype or family-history data were available to evaluate.
PP5
Not met: this variant is absent from ClinVar, so no expert-panel pathogenic classification exists to apply.
