PVS1
Not assessed: insufficient evidence was available to confirm loss-of-function for this canonical splice-donor variant.
PS2
Not assessed: no proband or parental genotype data was available to test for a de novo occurrence.
PS3
Not assessed: no functional (RNA or protein) studies of this variant were available.
PS4
Not met: no germline case-control or case-series enrichment data exists for this variant.
PM6
Not assessed: no de novo occurrence of this variant is reported in any source.
PP1
Not assessed: no segregation data in affected family members is available for this variant.
PP3
Not met: SpliceAI predicts near-certain splice disruption (delta 0.99), but the same splice-effect prediction is already captured under PVS1, so PP3 is not awarded.
PP4
Not assessed: no proband phenotype or family-history data was available to evaluate a gene-specific presentation.
PP5
Not met: ClinVar has no record for this variant, so no expert-panel pathogenic classification exists.
