PS1
Not met: reviewed reports describe c.2051C>T p.Ala684Val itself, but no alternate nucleotide change producing the same amino-acid substitution was identified.
PS2
Not assessed: two reported probands are described, but neither publication documents parental testing confirming the variant was absent in both parents.
PS3
Not assessed: no reviewed publication reports a validated functional assay result for AXIN2 c.2051C>T (p.Ala684Val).
PS4
Not assessed: one oligodontia proband and 200 control chromosomes were reported, but no exact-variant case-control enrichment statistic was provided.
PM1
Not assessed: no AXIN2 VCEP domain table or validated critical-domain evidence covers residue 684, and the hotspot search found no statistically significant hotspot.
PM2
Not met: gnomAD v4.1 overall AF is 0.00170591, exceeding the PM2 threshold of 0.0001.
PM5
Not met: no independently documented pathogenic or likely pathogenic alternate missense change at AXIN2 residue 684 was identified in the reviewed evidence.
PM6
Not assessed: patient reports identify the variant, but neither publication states presumed de novo inheritance or supplies parental-genotype evidence.
PP1
Not assessed: reports identify individual patients, but provide no affected-relative genotypes, pedigree, or informative meioses demonstrating cosegregation.
PP2
Not assessed: available AXIN2 sources do not establish the required gene-wide pattern of common pathogenic and rare benign missense variation.
PP3
Not met: missense REVEL score 0.157 is below the PP3 supporting threshold of >=0.644.
PP5
Not met: ClinVar has zero expert-panel submissions for the exact variant, and available assertions are non-expert submissions.
