ClinVar Miner

Submissions for variant NM_005035.4(POLRMT):c.3459C>G (p.Tyr1153Ter)

dbSNP: rs200224860
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV002221977 SCV002499413 likely pathogenic Combined oxidative phosphorylation deficiency 55 2022-04-10 criteria provided, single submitter clinical testing The c.3459C>G;p.(Tyr1153*) variant creates a premature translational stop signal in the POLRMT gene. It is expected to result in an absent or disrupted protein product -PVS1. This variant is not present in population databases (rs200224860- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic.

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