ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) (rs879253852)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000236154 SCV000262815 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
GeneDx RCV000284154 SCV000329615 pathogenic not provided 2016-09-08 criteria provided, single submitter clinical testing The Q734X variant has been reported previously in patients with methylmalonic acidemia (Mohamed et al. 2015; Imtiaz et al. 2015; Forny et al. 2016). Q734X was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q734X variant is predicted to cause loss of normal protein function through protein truncation. In summary, we interpret Q734X to be a pathogenic variant.

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