A: The variant NC_000021.9:g.46411424G>A in gene PCNT is classified as 'Uncertain_significance' for PCNT-related_disorder|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: .|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.