ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.847A>G (p.Ile283Val)

gnomAD frequency: 0.00004  dbSNP: rs145009373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002244477 SCV002513204 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; A different missense change at this residue (p.I283S) has been reported in the Human Gene Mutation Database (Stenson et al., 2014)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796713 SCV005416414 uncertain significance Combined oxidative phosphorylation deficiency 35 criteria provided, single submitter clinical testing PM2_Supporting

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