A: The variant NC_000021.9:g.46265512C>A in gene MCM3AP is classified as 'Likely_pathogenic' for Peripheral_neuropathy,_autosomal_recessive,_with_or_without_impaired_intellectual_development. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0029131,MedGen:C4748283,OMIM:618124. Review status: criteria provided, single submitter.