ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) (rs1554160638)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668034 SCV000792577 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000760390 SCV000890261 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing The E224X variant has been reported previously in an individual with mut0 MMA who also had a second nonsense variant identified in the MUT gene (Worgan et al., 2006). The E224X variant is not observed in large population cohorts (Lek et al., 2016). This E224X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret E224X as pathogenic.

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