ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys)

dbSNP: rs1020764190
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253809 SCV004812077 pathogenic Optic atrophy 12 2024-04-05 criteria provided, single submitter clinical testing Criteria applied: PS3,PS2_MOD,PS4_MOD,PM1,PM2_SUP,PP3
Unit of Genetics of Neurodegenerative and Metabolic Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta RCV000684752 SCV000803283 pathogenic Optic atrophy 2018-08-06 no assertion criteria provided clinical testing We report co-occurrence of a heterozygous de-novo AFG3L2 missense mutation (p.R468C) and a maternally-inherited heterozygous intragenic deletion of SPG7 in a patient with a complex ataxic and extrapyramidal phenotype with early-onset optic atrophy. Functional analysis in yeast model demonstrated that p.R468C abolished AFG3L2 function.
OMIM RCV001253809 SCV001429682 pathogenic Optic atrophy 12 2020-08-14 no assertion criteria provided literature only

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