A: The variant NC_000021.9:g.46427733G>C in gene PCNT is classified as 'Uncertain_significance' for Inborn_genetic_diseases|PCNT-related_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|.. Review status: criteria provided, single submitter.