PS1
Not assessed: insufficient evidence was available to evaluate whether the same amino-acid change has an established pathogenic designation.
PS2
Not assessed: no proband de novo occurrence, parental genotypes, or maternity/paternity confirmation were available.
PS3
Not assessed: no functional assay data for p.Met388Lys were identified in the literature or curated databases.
PS4
Not assessed: no variant-specific affected case series or case-control comparison was available.
PM1
Not assessed: insufficient evidence was available to evaluate whether the variant lies in a mutational hotspot or critical functional domain.
PM3
Not assessed: no affected-proband observations or phase information with pathogenic comparators in trans or cis were available.
PM5
Not assessed: insufficient evidence was available to evaluate whether a pathogenic missense change is established at the same residue.
PM6
Not assessed: no unconfirmed de novo observation with pedigree or parental details was available.
PP1
Not assessed: no segregation data (affected or unaffected relatives, meioses, pedigree structure) were available.
PP2
Not assessed: insufficient evidence was available to evaluate the gene's rate of benign missense variation.
PP4
Not assessed: no patient phenotype or disease-specific clinical profile was provided.
PP5
Not met: the exact variant is absent from ClinVar, with no expert-panel Pathogenic or Likely Pathogenic assertion.
