PS1
Not assessed: no established pathogenic variant with the same Tyr237Cys amino-acid change was identified in the available evidence.
PS2
Not assessed: no confirmed de novo occurrence or parental genotypes are documented for CTNNA1 c.710A>G.
PS3
Not assessed: no validated variant-specific functional assay or abnormal experimental result was available for CTNNA1 p.Tyr237Cys.
PS4
Not assessed: no variant-specific case-control enrichment, prevalence comparison, or affected-case series was identified for CTNNA1 c.710A>G.
PM1
Not met: residue Tyr237 is not in a documented critical domain or statistically significant hotspot, and no gene-specific domain table applies.
PM3
Not assessed: no affected-proband observation, pathogenic variant in trans, or phase evidence is documented for this CTNNA1 variant.
PM5
Not assessed: no pathogenic or likely pathogenic alternate missense variant at CTNNA1 residue 237 was identified for comparison.
PM6
Not assessed: no presumed de novo occurrence with incomplete parental testing is documented for CTNNA1 c.710A>G.
PP1
Not assessed: zero informative affected-relative or meiosis data are documented for CTNNA1 c.710A>G.
PP2
Not assessed: no calibrated CTNNA1 missense-spectrum evidence demonstrates high benign and low pathogenic missense rates for PP2.
PP3
Not met: REVEL 0.278 is below the PP3 supporting threshold of 0.644, and no calibrated BayesDel cutoff or CTNNA1-specific rule is available.
PP4
Not assessed: no patient phenotype or highly specific disease feature is documented for this exact CTNNA1 variant.
PP5
Not met: ClinVar reports zero expert-panel submissions and no exact-variant Pathogenic or Likely pathogenic expert-panel classification.
