PS1
Not assessed: insufficient evidence was available to establish this amino acid change as a previously reported pathogenic variant.
PS2
Not assessed: no parental genotyping, parentage confirmation, or inheritance data were available to confirm a de novo occurrence.
PS3
Not assessed: no functional assay data for this specific variant (p.Glu1064Asp) were identified in the literature.
PS4
Not assessed: no case-control or statistical enrichment data for this variant were available.
PM1
Not assessed: insufficient evidence was available to evaluate location in a mutational hotspot or critical functional domain.
PM5
Not assessed: insufficient evidence was available to determine whether this exact amino acid change has been reported pathogenic at this position.
PM6
Not assessed: no parental testing or proband phenotype data were available to establish a presumed de novo occurrence.
PP1
Not assessed: no pedigree, genotype, or segregation data from informative relatives were available.
PP2
Not assessed: insufficient evidence was available to evaluate how often benign missense variants occur in this gene.
PP3
Not met: REVEL score 0.106 is far below the >=0.644 pathogenic threshold, and SpliceAI max delta 0.055 predicts no splice disruption.
PP4
Not assessed: no phenotype or clinical indication was provided, so a highly specific phenotype could not be established.
PP5
Not met: no ClinVar record for this exact variant was found, so no expert-panel pathogenic assertion exists.
