PVS1
A specific sequence change, variant class, and transcript consequence were not resolved, and germline loss-of-function eligibility for this gene was not established.
PS1
No specific nucleotide change or protein consequence was resolved, so it was not possible to determine whether this variant creates the same amino acid change as a previously established pathogenic variant.
PS2
No de novo data were identified for a specific variant, and no family-based confirmation could be evaluated.
PS3
No variant-specific functional studies were identified because a specific sequence change was not resolved and no relevant PMID-backed functional literature was retrieved.
PS4
No variant-specific case enrichment or case-control data could be evaluated because a specific variant was not resolved.
PM1
No amino acid position or protein domain could be assigned, so it was not possible to determine whether this variant lies in a critical region or mutational hot spot without benign variation.
PM2
No genomic coordinates were resolved, so no gnomAD population frequency was available.
PM3
No phase or trans observations with a pathogenic variant were identified, and no specific variant was available for recessive-case review.
PM4
No in-frame protein length change was established because the variant class and protein consequence were not resolved.
PM5
Classic same-residue PM5 review could not be performed because no missense residue context was resolved, and available comparator harvesting did not confirm safe use of PM5 logic for this case.
PM6
No assumed de novo evidence was identified for a specific variant, so PM6 could not be evaluated.
PP1
No segregation data were identified for a specific variant, so cosegregation with disease could not be assessed.
PP2
No resolved variant class was available, so it was not possible to determine whether this is a missense variant in a gene with low benign missense variation and a common pathogenic missense mechanism.
PP3
No computational predictor results were available because no specific variant coordinates or consequence were resolved.
PP4
No phenotype-specific or molecularly specific disease presentation data were provided for a resolved variant, so PP4 could not be assessed.
PP5
No resolved variant was available for review of reputable-source pathogenic assertions, and this criterion is not used without variant-specific supporting evidence.