ClinVar Miner

Submissions for variant NM_001397406.1(FDX2):c.299A>G (p.Asp100Gly)

gnomAD frequency: 0.00151  dbSNP: rs142729488
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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 RCV001445297 SCV001648325 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001445297 SCV001784214 uncertain significance not provided 2021-06-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Mayo Clinic Laboratories, Mayo Clinic RCV001445297 SCV005408713 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing BP4
PreventionGenetics, part of Exact Sciences RCV003946162 SCV004758176 likely benign FDX2-related disorder 2023-04-26 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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