PVS1
BCORL1 loss of function appears to be an established germline disease mechanism, but this variant is an in-frame duplication rather than a nonsense, frameshift, or canonical splice-site variant.
PS1
PS1 is intended for the same amino acid change as a previously established pathogenic variant.
PS2
No de novo data were identified for this variant.
PS3
No well-established functional study of this specific variant was identified.
PS4
This variant has not been reported in ClinVar or COSMIC, and no case series or enrichment data in affected individuals were identified.
PM1
This variant does not lie in a statistically significant hotspot, and no critical functional domain with established pathogenic clustering at this interval was identified.
PM3
No phase data or additional pathogenic variant data were identified.
PM4
This variant is an in-frame protein duplication, but available evidence does not establish that this protein length change occurs in a clearly non-repetitive, functionally constrained region or has a demonstrated pathogenic effect.
PM6
No assumed de novo occurrence was identified for this variant.
PP1
No segregation data were identified for this variant.
PP3
SpliceAI predicts no significant splice impact for this variant, with a maximum delta score of 0.00.
PP4
No phenotype information was provided to assess whether the clinical presentation is highly specific for a BCORL1-related disorder.
PP5
No reputable source classification for this specific variant was identified.
