ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.2278G>A (p.Glu760Lys)

gnomAD frequency: 0.00100  dbSNP: rs115203053
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901856 SCV001046246 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000901856 SCV002056058 uncertain significance not provided 2021-12-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002537549 SCV003575451 likely benign Inborn genetic diseases 2022-06-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004531027 SCV004721883 likely benign ACO2-related disorder 2022-05-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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