ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.506A>T (p.Asp169Val)

gnomAD frequency: 0.00141  dbSNP: rs146356199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200335 SCV000251378 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in siblings with juvenile idiopathic arthritis; these siblings were also homozygous for a variant in another gene that the authors classified as pathogenic (Rabinot et al., 2019); 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: 30872671)
Invitae RCV000557427 SCV000652846 likely benign Combined oxidative phosphorylation defect type 14 2021-12-02 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000557427 SCV000845681 uncertain significance Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing

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