PS1
Not assessed: no ClinVar record exists and no other nucleotide change producing the same p.Gly309Val amino acid change was found.
PS2
Not assessed: no proband phenotype, parental genotypes, or parentage confirmation were provided, so de novo occurrence cannot be established.
PS3
Not assessed: no functional assay evidence for p.Gly309Val (transcriptional activity, dimerization, or proliferation) was identified.
PS4
Not assessed: no case-control or case-enrichment evidence for this variant was supplied.
PM1
Not assessed: residue Gly309 falls in no known mutational hotspot or characterized functional domain of MYCN.
PM3
Not assessed: no pathogenic variant in trans was identified, and MYCN-related Feingold syndrome is autosomal dominant.
PM5
Not assessed: no alternate pathogenic missense change at codon 309 was identified.
PM6
Not assessed: no report of a de novo occurrence without confirmed parentage was provided.
PP1
Not assessed: no affected or unaffected relatives with genotypes were reported, so cosegregation cannot be evaluated.
PP2
Not assessed: MYCN missense pathogenicity is position-dependent, and no gene-level missense constraint statistic was available.
PP3
Not met: REVEL score 0.214 falls well below the 0.644 supporting-pathogenic threshold.
PP4
Not assessed: no proband phenotype or diagnostic context was available for this variant.
PP5
Not met: ClinVar has no exact-variant record, so no expert-panel pathogenic assertion exists.
