ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.708_723del (p.Ser237fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002603620 SCV003501684 pathogenic not provided 2022-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser237Profs*6) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACO2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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