ClinVar Miner

Submissions for variant NM_003102.4(SOD3):c.691C>G (p.Arg231Gly)

gnomAD frequency: 0.01270  dbSNP: rs1799895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV003924831 SCV006054009 benign SOD3-related disorder 2023-04-17 criteria provided, single submitter research
OMIM RCV000013615 SCV000033862 pathogenic Superoxide dismutase, elevated extracellular 2004-01-06 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003924831 SCV004739305 likely benign SOD3-related disorder 2023-01-05 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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