ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.965A>G (p.Glu322Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV004821375 SCV005441773 uncertain significance Optic atrophy 12 2025-01-02 criteria provided, single submitter clinical testing PM2_sup:Extremely low frequency in gnomAD population databases PP3:For a missense or a splicing region variant, computational prediction tools unanimously support a deleterious effect on the gene PM5_sup:Different amino acid change as a known pathogenic variant

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