PS1
Not assessed: insufficient evidence was available to compare this variant against a known pathogenic change at the same amino acid position.
PS2
Not assessed: no parental genotypes, parentage confirmation, or de novo observation was available to establish de novo origin.
PS3
Not assessed: no validated functional assay data addressing this specific variant was available.
PS4
Not assessed: no case-control enrichment or affected-case series data was available for this variant.
PM1
Not assessed: insufficient evidence was available to evaluate location in a mutational hotspot or critical functional domain.
PM3
Not assessed: no second-allele, phase, or inheritance data was available to evaluate a trans configuration.
PM5
Not assessed: insufficient evidence was available to identify an established pathogenic missense at the same amino acid position.
PM6
Not assessed: no unconfirmed de novo observation with negative family history was available.
PP1
Not assessed: no pedigree, affected relatives, or cosegregation data was available.
PP2
Not assessed: insufficient evidence was available to evaluate this gene's pattern of pathogenic missense variation.
PP3
Not met: SpliceAI max delta 0.056 is below the 0.2 splice-altering threshold and REVEL 0.071 predicts no missense impact.
PP4
Not assessed: no sufficiently specific phenotype or genotype-phenotype correlation was available.
PP5
Not met: the exact variant is absent from ClinVar, with no expert-panel Pathogenic or Likely Pathogenic classification.
