ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.676C>T (p.His226Tyr)

gnomAD frequency: 0.00004  dbSNP: rs201991648
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549295 SCV000652851 likely benign Combined oxidative phosphorylation defect type 14 2023-12-30 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000549295 SCV000845687 uncertain significance Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935503 SCV004747325 likely benign FARS2-related condition 2022-03-13 criteria provided, single submitter 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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