ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.1029del (p.Val344fs)

gnomAD frequency: 0.00001  dbSNP: rs1331558743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002275770 SCV002562382 likely pathogenic not provided 2022-08-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796719 SCV005416415 likely pathogenic Combined oxidative phosphorylation deficiency 35 criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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