PS1
No evidence was identified showing that a different nucleotide change produces the same amino acid substitution with an established pathogenic classification, so PS1 was not assessed.
PS2
No confirmed de novo occurrence with parental testing was identified, so PS2 was not assessed.
PS3
No well-established functional study for this exact variant was identified, so PS3 was not assessed.
PS4
No enrichment data or repeated observations in affected individuals were identified for this variant, so PS4 was not assessed.
PM1
Available hotspot review did not identify a statistically significant hotspot at Gly1856, but the hotspot result was flagged for confirmation, so PM1 was not assessed.
PM3
No observations of this variant in trans with a pathogenic or likely pathogenic variant were identified, so PM3 was not assessed.
PM5
No different pathogenic missense change at codon 1856 was identified from the available evidence, so PM5 was not assessed.
PM6
No assumed de novo occurrence without confirmed parentage was identified, so PM6 was not assessed.
PP1
No segregation data were identified for this variant, so PP1 was not assessed.
PP2
Available evidence did not establish a gene-specific missense constraint or a predominance of pathogenic missense variation sufficient to apply PP2, so PP2 was not assessed.
PP3
Available computational evidence does not support a damaging effect.
PP4
No phenotype information specific enough to establish a highly specific clinical presentation for this variant was identified, so PP4 was not assessed.
PP5
No reputable source classification for this exact variant was identified, so PP5 was not assessed.
