A: The variant NC_000022.11:g.17592691T>A in gene ATP6V1E1 is classified as 'Uncertain_significance' for Autosomal_recessive_cutis_laxa_type_2C. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0027462,MedGen:C4479387,OMIM:617402. Review status: criteria provided, single submitter.