PS1
Not met: no established pathogenic same-amino-acid change at DNMT3A Asp702 was identified, and the available functional paper does not mention Asp702Glu.
PS2
Not assessed: no documented de novo proband result or confirmed parental testing is available for this variant.
PS3
Not assessed: the assay study tested 253 DNMT3A variants but did not mention c.2106T>A (p.Asp702Glu).
PS4
Not assessed: no exact-variant case-control counts or validated enrichment statistic were available for PS4.
PM3
Not assessed: no affected-proband observation, pathogenic second allele, phase, or inheritance data are available to establish PM3.
PM5
Not assessed: no validated pathogenic or likely pathogenic alternate substitution at DNMT3A residue 702 was available for comparison.
PM6
Not assessed: no presumed de novo report or parental testing is documented for this variant.
PP1
Not assessed: no informative affected-relative segregation, meioses, or genotype-phenotype family data are documented.
PP2
Not assessed: available data show pathogenic missense biology but do not establish the required gene-level pattern of common disease-causing and rare benign missense variation.
PP4
Not assessed: no patient phenotype or disease-specific family history was documented to establish a highly specific DNMT3A match.
PP5
Not met: the exact variant has no ClinVar record or expert-panel Pathogenic/Likely pathogenic classification.
