PS1
Not assessed: no validated pathogenic comparator producing the same p.Pro225Ser amino-acid change was identified.
PS2
Not assessed: no proband phenotype, parental genotypes, maternity/paternity confirmation, or independent confirmed de novo observations are documented.
PS3
Not assessed: no variant-specific validated functional assay, assay controls, or quantitative result was available to support a damaging functional conclusion.
PS4
Not assessed: no exact-variant case-control counts or enrichment statistic are available to establish increased prevalence of ARID1A c.673C>T.
PM1
Not assessed: hotspot evidence is negative, while no authoritative ARID1A domain boundaries establish whether residue 225 is functionally critical.
PM3
Not assessed: no affected proband, second pathogenic variant, phase information, or inheritance mode is documented for the tested ARID1A variant.
PM5
Not assessed: no validated pathogenic alternate missense variant at ARID1A residue 225 was available for PM5 comparison.
PM6
Not assessed: no affected-proband de novo observation or parental testing is documented, so presumed de novo evidence cannot be evaluated.
PP1
Not assessed: no relatives, informative meioses, pedigree, or variant–phenotype segregation data are reported.
PP2
Not met: ARID1A missense mechanism is unestablished, and gnomAD v4.1 shows AF 2.67251e-06 without proving PP2's gene-level requirement.
PP3
Not assessed: the missense variant lacks an available calibrated REVEL or BayesDel score, while SpliceAI is not the applicable path for this exonic missense change.
PP4
Not assessed: no proband phenotype or disease-specific clinical presentation is available to evaluate phenotype specificity for ARID1A c.673C>T.
PP5
Not met: ClinVar has no record for this exact variant, so no expert-panel Pathogenic or Likely pathogenic classification exists to support PP5.
