PS1
No reviewed evidence identified another nucleotide change causing the same amino acid substitution with an established pathogenic classification, so PS1 cannot be assessed from the available evidence.
PS2
No confirmed de novo occurrence with parental confirmation was identified for this variant, so PS2 is not assessed.
PS3
No well-established functional study showing a damaging effect of p.(Arg985Trp) was identified, so PS3 is not assessed.
PS4
No case-control enrichment or affected-individual series demonstrating a significant excess of this variant in disease was identified, so PS4 is not assessed.
PM1
This residue was not identified in Cancer Hotspots, and available reviewed evidence does not show that p.Arg985 lies in a statistically significant hotspot for this gene.
PM5
No reviewed evidence identified a different pathogenic missense change at the same amino acid residue, so PM5 is not assessed.
PM6
No apparent de novo report without full parental confirmation was identified for this variant, so PM6 is not assessed.
PP1
No segregation data were identified for this variant, so PP1 is not assessed.
PP2
Available reviewed sources do not establish a gene-level missense pattern that would support PP2 for this variant, so PP2 is not assessed.
PP3
Computational evidence is conflicting rather than consistently damaging.
PP4
No individual-level phenotype or family history data were provided that would support a highly specific clinical presentation for this variant, so PP4 is not assessed.
PP5
ClinVar lists this variant as Uncertain significance with single-submitter review status rather than as a pathogenic or likely pathogenic expert classification, so PP5 is not met.