A: The variant NC_000019.10:g.40394766del in gene PLD3 is classified as 'Pathogenic' for Spinocerebellar_ataxia_46. Molecular consequence: SO:0001589: frameshift_variant,SO:0001624: 3_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0033481,MedGen:C4540404,OMIM:617770,Orphanet:589522. Review status: criteria provided, single submitter.