ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.-39-1G>A (rs879253822)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000235867 SCV000262777 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
GeneDx RCV000522555 SCV000618256 pathogenic not provided 2017-10-23 criteria provided, single submitter clinical testing The c.-39-1 G>A variant has been reported previously in a patient with methylmalonic acidemia and is classified as a severe mut0 variant resulting in no functional protein (Forny et al. 2016). The c.-39-1 G>A variant is not observed in large population cohorts (Lek et al., 2016). The c.-39-1 G>A variant is predicted to destroy the canonical splice acceptor site in intron 1, and is expected to cause abnormal gene splicing. In summary, we interpret this variant as pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000522555 SCV000858303 pathogenic not provided 2017-11-22 criteria provided, single submitter clinical testing

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