ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter)

dbSNP: rs771725115
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV001813904 SCV002061194 likely pathogenic Combined oxidative phosphorylation defect type 15 2022-01-05 criteria provided, single submitter clinical testing The variant creates a premature translational stop signal c.459G>A;p.(Trp153*) in MTFMT gene. It is expected to result in an absent or disrupted protein product - PVS1.This variant is not present in population databases (rs771725115, gnomAD; ABraOM no frequency - - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic.

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