A: The variant NC_000019.10:g.19186053T>G in gene BORCS8-MEF2B is classified as 'Pathogenic' for Neurodegeneration,_infantile-onset,_with_optic_atrophy_and_brain_abnormalities. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0975837,MedGen:C5975477,OMIM:620987. Review status: no assertion criteria provided.