PS1
Not met: no alternate-nucleotide variant producing p.Arg321Gly is established as pathogenic; the only ClinVar record is this variant itself (VUS).
PS2
Not assessed: no proband, parental-testing, or trio data were available to evaluate a de novo occurrence.
PS3
Not assessed: no wet-lab functional study of this variant was available in either direction.
PS4
Not assessed: no case-control or cohort study of this variant exists to demonstrate enrichment in affected individuals.
PM1
Not met: no mutational hotspot or critical functional domain is documented at MYCL Arg321, and no benign-variation constraint was established.
PM3
Not assessed: no allele-phase or segregation data exist, and MYCL has no established autosomal-recessive germline disease association.
PM5
Not assessed: no alternate missense change at Arg321 is established as pathogenic; flagged for human review.
PM6
Not assessed: no proband observation or parental-testing status is available to evaluate an assumed de novo occurrence.
PP1
Not assessed: no pedigree, affected relatives, or segregation data exist for this variant.
PP2
Not met: missense is not MYCL's disease mechanism — it is activated by amplification — and no missense constraint data support a low benign-missense rate.
PP4
Not assessed: no proband phenotype or family history data were available.
PP5
Not met: no ClinVar expert-panel pathogenic classification exists for this exact variant — only a single-submitter laboratory VUS.
