ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.1507G>T (p.Gly503Ter)

dbSNP: rs2146139034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591860 SCV001815983 pathogenic Optic atrophy 9 2021-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882711 SCV002117347 pathogenic not provided 2022-08-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ACO2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly503*) in the ACO2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACO2 are known to be pathogenic (PMID: 30689204, 32519519). ClinVar contains an entry for this variant (Variation ID: 1213918). For these reasons, this variant has been classified as Pathogenic.

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