A: The variant NC_000021.9:g.43753642G>A in gene PDXK is classified as 'Pathogenic' for Neuropathy,_hereditary_motor_and_sensory,_type_VIc,_with_optic_atrophy|PDXK-related_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032792,MedGen:C5193137,OMIM:618511|.. Review status: criteria provided, single submitter.