PVS1
Not assessed: the transcript context could not be resolved, so whether this 2-bp deletion causes a frameshift that triggers nonsense-mediated decay could not be determined.
PS1
Not assessed: no established pathogenic variant with the same amino-acid change was identified, and this 2-bp deletion produces a frameshift, not a single amino-acid substitution.
PS2
Not assessed: no de novo occurrence evidence from proband and parental testing was available.
PS3
Not assessed: insufficient functional or validated-assay evidence was available to evaluate the variant's effect.
PS4
Not assessed: no case-control data with affected and control allele counts were available.
PM1
Not assessed: the protein position and domain context could not be resolved, so mutational hotspot or functional-domain status could not be evaluated.
PM2
Not assessed: no reliable population allele count or frequency was available, so absence from population databases could not be established.
PM3
Not assessed: no affected probands, segregation data, or documented pathogenic variant in trans were available.
PM4
Not assessed: without a resolved transcript consequence, whether this deletion is in-frame or frameshift could not be determined.
PM5
Not assessed: this 2-bp deletion causes a frameshift, not a missense substitution, so the classic same-residue PM5 comparison did not apply and no candidate was confirmed.
PM6
Not assessed: no clinical or family observation of an assumed de novo occurrence was available.
PP1
Not assessed: no segregation data from affected or unaffected relatives were available.
PP2
Not assessed: this is a 2-bp deletion, not a missense variant, so the missense-specific PP2 rule does not apply to it.
PP3
Not assessed: no calibrated computational prediction, splice or missense, was available for this 2-bp deletion.
PP4
Not assessed: no individual phenotype or phenotype-specificity evidence was available.
PP5
Not assessed: no ClinVar expert-panel pathogenic or likely-pathogenic assertion for this exact variant was available.