ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1013C>A (p.Ala338Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003152939 SCV003841507 uncertain significance Optic atrophy 12 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.76; 3Cnet: 0.16). A different missense change at the same codon (p.Ala338Thr) has been reported to be associated with AFG3L2 related disorder (PMID: 26633542). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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